ARHGAP21 p.Pro320=
c.960A>C · rs111870263 · VCV749771
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.224%, 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 -6.6 | GERP -4.9 |
| Overall | ||
| CADD | 0.282 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.224%
African / African-American · 168/75,030 alleles
Filtering AF
0.196%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.186%
Overall
0.0127%
205/1,613,920 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.224% | 447 |
| Remaining individualsnot grpmax-eligible | 0.0304% | 3,289 |
| Admixed American | 0.02% | 5,000 |
| South Asian | 0.0011% | 91,076 |
| European (non-Finnish) | 0.000424% | 235,970 |
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
- ARHGAP21
- Protein
- p.Pro320=
- Coding
- c.960A>C
- MANE Select
- NM_020824
- dbSNP
- rs111870263
- Type
- single nucleotide variant
- Location
- chr10:24620935 (GRCh38)
- Gene constraint
- LOEUF 0.261 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 45.03 · 3 PDB
- Residue 320
- the 'disordered' region
Similar variants
- ARHGAP10 p.Asn222Ser Uncertain significance ★★ ⚠ same type
- ARHGAP10 p.Ala405= Benign ★★ same type
- ARHGAP10 p.Arg243= Benign ★★ same type
- ARHGAP10 p.Ile676Val Likely benign ★★ same type
- ARHGAP10 p.Ser487= Benign ★★ same type
- ARHGAP10 p.Tyr614= Benign ★★ same type
- ARHGAP21 p.Cys1016Ser Likely benign ★★ same type
- ARHGAP21 p.Gly1121Ser 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/arhgap21-p-pro320 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown