ARHGAP24 p.Val207=
c.621G>A · rs74779744 · VCV2047645
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.419%, 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 3.2 | GERP 5.4, phastCons 1 |
| Overall | ||
| CADD | 10.97 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.419%
African / African-American · 314/74,936 alleles
Filtering AF
0.381%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.366%
Overall
0.025%
403/1,613,828 alleles · rare
exomes 219/1,461,824 · genomes 184/152,004 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.419% | 239 |
| Middle Eastern | 0.0825% | 1,212 |
| Remaining individualsnot grpmax-eligible | 0.04% | 2,500 |
| Admixed American | 0.0333% | 3,000 |
| South Asian | 0.00989% | 10,115 |
| European (non-Finnish) | 0.00254% | 39,331 |
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
- ARHGAP24
- Protein
- p.Val207=
- Coding
- c.621G>A
- MANE Select
- NM_001025616
- dbSNP
- rs74779744
- Type
- single nucleotide variant
- Location
- chr4:85972057 (GRCh38)
- Gene constraint
- LOEUF 0.797 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.68
- Residue 207
- the rho-gap domain
Similar variants
- ARHGAP24 p.Arg39His Uncertain significance ★★ ⚠ same type
- ARHGAP24 p.Arg483Cys Uncertain significance ★★ ⚠ same type
- ARHGAP24 p.Arg93Ter Uncertain significance ★★ same type
- ARHGAP24 p.Arg95Gln Uncertain significance ★★ ⚠ same type
- ARHGAP24 p.Asn454Ser Uncertain significance ★★ ⚠ same type
- ARHGAP24 p.Asn587Ile Uncertain significance ★★ ⚠ same type
- ARHGAP24 p.Asp55Val Uncertain significance ★★ same type
- ARHGAP24 p.Gln158Arg 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/arhgap24-p-val207 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown