ARHGEF7 p.Pro636=
c.1908C>T · rs140255792 · VCV707928
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.35%, 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 -9.2 | GERP -2 |
| Overall | ||
| CADD | 0.3 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.35%
African / African-American · 259/74,102 alleles
Filtering AF
0.314%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.301%
Overall
0.0204%
318/1,561,848 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.35% | 286 |
| Remaining individualsnot grpmax-eligible | 0.0148% | 6,757 |
| Admixed American | 0.00926% | 10,794 |
| European (non-Finnish) | 0.00389% | 25,727 |
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
- ARHGEF7
- Protein
- p.Pro636=
- Coding
- c.1908C>T
- MANE Select
- NM_001354046
- dbSNP
- rs140255792
- Type
- single nucleotide variant
- Location
- chr13:111283321 (GRCh38)
- Gene constraint
- LOEUF 0.53 · pLI 0.78 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 66.31 · 4 PDB
- Residue 636
- the 'disordered' region
Similar variants
- PAK3 p.Arg100Ter Pathogenic/Likely pathogenic ★★ same type
- PAK3 p.Arg436Ter Pathogenic/Likely pathogenic ★★ same type
- PAK3 p.Glu356Ter Pathogenic/Likely pathogenic ★★ same type
- PAK3 c.830+6T>A Uncertain significance ★★ same type
- PAK3 p.Ala490Thr Uncertain significance ★★ ⚠ same type
- PAK3 p.Arg493Cys Uncertain significance ★★ ⚠ same type
- PAK3 p.Arg498Cys Uncertain significance ★★ ⚠ same type
- PAK3 p.Asn185Thr Uncertain significance ★★ ⚠ 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/arhgef7-p-pro636 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown