WIPF1

Chr 2AR

WAS/WASL interacting protein family member 1

Also known as: PRPL-2, WAS2, WASPIP, WIP

NCBI Gene: 7456 ENSG00000115935 UniProt: O43516 OMIM: 602357

This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.391 OMIM phenotype

Clinical Summary— WIPF1

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Gene-Disease Validity (ClinGen)

Wiskott-Aldrich syndrome 2 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.90). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

6 unique Pathogenic / Likely Pathogenic· 178 VUS of 383 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.39LOEUF

pLI 0.903

Z-score 3.29

OE 0.12 (0.05–0.39)

Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.15Z-score

OE missense 0.82 (0.74–0.91)

259 obs / 316.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.12 (0.05–0.39)

0≤0.351.4

Missense OE?0.82 (0.74–0.91)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 2 / 16.3Missense obs/exp: 259 / 316.8Syn Z: 0.56

ClinVar Variant Classifications

383 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6

VUS178

Likely Benign159

Benign18

Conflicting5

Pathogenic

178

VUS

159

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	6	0	0	0	6
Likely Pathogenic	0	0	0	0	0
VUS	2	170	5	1	178
Likely Benign	0	12	28	119	159
Benign	0	1	11	6	18
Conflicting	—				5
Total	8	183	44	126	366

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

30 pathogenic / likely-pathogenic (of 34) ClinVar copy-number / structural variants overlap WIPF1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →