ARHGAP1 p.Pro236=
c.708C>A · rs144522434 · VCV733740
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.14%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.082 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -5.4 | GERP -4 |
| Overall | ||
| CADD | 0.2 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.14%
African / African-American · 854/74,922 alleles
Filtering AF
1.08%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.05%
Overall
0.0652%
1,047/1,606,194 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.14% | 88 |
| Remaining individualsnot grpmax-eligible | 0.0868% | 1,152 |
| Admixed American | 0.0603% | 1,658 |
| South Asian | 0.0566% | 1,768 |
| Middle Eastern | 0.0499% | 2,005 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0207% | 4,831 |
| East Asian | 0.00447% | 22,394 |
| European (non-Finnish) | 0.00349% | 28,669 |
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
- ARHGAP1
- Protein
- p.Pro236=
- Coding
- c.708C>A
- MANE Select
- NM_004308
- dbSNP
- rs144522434
- Type
- single nucleotide variant
- Location
- chr11:46680675 (GRCh38)
- Gene constraint
- LOEUF 0.601 · pLI 0.14 (gnomAD)
- Structure
- AlphaFold pLDDT 82.64 · 11 PDB
Similar variants
- ARHGAP1 p.Leu263Phe Benign ★★ same type
- ARHGAP1 p.Pro52= Benign ★★ same type
- ARHGAP1 p.Ala225Ser Uncertain significance ★ ⚠ same type
- ARHGAP1 p.Ala26Val Uncertain significance ★ ⚠ same type
- ARHGAP1 p.Ala373Thr Uncertain significance ★ ⚠ same type
- ARHGAP1 p.Ala68Pro Uncertain significance ★ ⚠ same type
- ARHGAP1 p.Arg234Gln Uncertain significance ★ ⚠ same type
- ARHGAP1 p.Arg234Trp 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/arhgap1-p-pro236 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown