RALGPS2

Chr 1

Ral GEF with PH domain and SH3 binding motif 2

Also known as: dJ595C2.1

NCBI Gene: 55103 ENSG00000116191 UniProt: Q86X27 OMIM: 617819

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Predicted to be located in cytoplasm. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 0.41

Clinical Summary— RALGPS2

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.

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ClinVar Variants

160 VUS of 188 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.41LOEUF

pLI 0.262

Z-score 4.40

OE 0.23 (0.14–0.41)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.14Z-score

OE missense 0.66 (0.58–0.74)

200 obs / 305.1 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.23 (0.14–0.41)

0≤0.351.4

Missense OE?0.66 (0.58–0.74)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 9 / 38.5Missense obs/exp: 200 / 305.1Syn Z: 0.56

ClinVar Variant Classifications

188 submitted variants in ClinVar

ClinVar

Classification Summary

VUS160

Likely Benign2

Benign1

160

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	160	0	160
Likely Benign	2	0	2
Benign	0	1	1
Total	162	1	163

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

View in ClinVar →

23 pathogenic / likely-pathogenic (of 26) ClinVar copy-number / structural variants overlap RALGPS2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →