ARHGAP10 p.Arg243=
c.729G>A · rs113611599 · VCV717842
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.46%, 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 0.84 | GERP -4.5, phastCons 1 |
| Overall | ||
| CADD | 7.756 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.46%
African / African-American · 3,318/74,476 alleles
Filtering AF
4.33%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.28%
Overall
0.325%
5,212/1,604,706 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.46% | 22 |
| South Asian | 1.3% | 77 |
| Remaining individualsnot grpmax-eligible | 0.43% | 232 |
| Middle Eastern | 0.349% | 286 |
| Admixed American | 0.318% | 314 |
| European (non-Finnish) | 0.0231% | 4,330 |
| East Asian | 0.00448% | 22,308 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00341% | 29,286 |
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
- ARHGAP10
- Protein
- p.Arg243=
- Coding
- c.729G>A
- MANE Select
- NM_020824 · reported on NM_024605
- dbSNP
- rs113611599
- Type
- single nucleotide variant
- Location
- chr4:147875047 (GRCh38)
- Structure
- AlphaFold pLDDT 45.03 · 3 PDB
Similar variants
- ARHGAP10 p.Asn222Ser Uncertain significance ★★ ⚠ same type
- ARHGAP10 p.Ala405= 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
- ARHGAP21 p.Gly766Arg Likely 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/arhgap10-p-arg243 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown