ARHGAP32 p.Pro1835=
c.5505C>T · rs79505038 · VCV747456
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.143%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -3.3 | GERP -5.1 |
| Overall | ||
| CADD | 1.44 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.143%
African / African-American · 107/74,998 alleles
Filtering AF
0.121%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.113%
Overall
0.00849%
137/1,614,056 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.143% | 701 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,625 |
| Admixed American | 0.005% | 20,004 |
| East Asian | 0.00223% | 44,882 |
| European (non-Finnish) | 0.00169% | 59,000 |
| Finnishnot grpmax-eligible | 0.00156% | 64,006 |
| South Asian | 0.0011% | 91,068 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ARHGAP32
- Protein
- p.Pro1835=
- Coding
- c.5505C>T
- MANE Select
- NM_001378024
- dbSNP
- rs79505038
- Type
- single nucleotide variant
- Location
- chr11:128969708 (GRCh38)
- Gene constraint
- LOEUF 0.349 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 43.67 · 2 PDB
- Residue 1835
- the 'disordered' region; the 'interaction with fyn' region
Similar variants
- ARHGAP32 c.360-10T>C Benign/Likely benign ★★ same type
- ARHGAP32 p.Ala1413= Benign ★★ same type
- ARHGAP32 p.Ala2078= Likely benign ★★ same type
- ARHGAP32 p.Arg1412= Benign ★★ same type
- ARHGAP32 p.Arg1629= Likely benign ★★ same type
- ARHGAP32 p.Arg1726Trp Benign ★★ same type
- ARHGAP32 p.Glu1154Gly Benign ★★ same type
- ARHGAP32 p.Glu390= Benign ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/arhgap32-p-pro1835 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown