SOWAHA

Chr 5

sosondowah ankyrin repeat domain family member A

Also known as: ANKRD43

NCBI Gene: 134548ENSG00000198944UniProt: Q2M3V2
0
Active trials
15
Pathogenic / LP
111
ClinVar variants
1
Pubs (1 yr)
0.9
Missense Z
0.59
LOEUF
Clinical Summary— SOWAHA
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.68) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
15 Pathogenic / Likely Pathogenic· 91 VUS of 111 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.59LOEUF
pLI 0.682
Z-score 2.30
OE 0.12 (0.04–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.85Z-score
OE missense 0.86 (0.77–0.95)
242 obs / 282.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.12 (0.04–0.59)
0≤0.351.4
Missense OE0.86 (0.77–0.95)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 1 / 8.0Missense obs/exp: 242 / 282.2Syn Z: 0.65

ClinVar Variant Classifications

111 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
Likely Pathogenic1
VUS91
Likely Benign5
14
Pathogenic
1
Likely Pathogenic
91
VUS
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
1
0
1
VUS
0
89
2
0
91
Likely Benign
0
4
1
0
5
Benign
0
0
0
0
0
Total093180111

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

View in ClinVar →

SOWAHA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients