ARHGAP45 p.Val805=
c.2415G>A · rs115889781 · VCV710670
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.71%, 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 1.4 | GERP -0.94, phastCons 1 |
| Overall | ||
| CADD | 8.6 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.71%
African / African-American · 1,281/75,034 alleles
Filtering AF
1.63%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.6%
Overall
0.0871%
1,404/1,612,720 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.71% | 59 |
| Remaining individualsnot grpmax-eligible | 0.0993% | 1,007 |
| Admixed American | 0.0717% | 1,394 |
| Middle Eastern | 0.0502% | 1,993 |
| South Asian | 0.00769% | 12,998 |
| European (non-Finnish) | 0.000678% | 147,466 |
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
- ARHGAP45
- Protein
- p.Val805=
- Coding
- c.2415G>A
- MANE Select
- NM_012292
- dbSNP
- rs115889781
- Type
- single nucleotide variant
- Location
- chr19:1081859 (GRCh38)
- Gene constraint
- LOEUF 0.75 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.96 · 2 PDB
- Residue 805
- the rho-gap domain
Similar variants
- ARHGAP45 c.422-1836C>T Benign ★★ same type
- ARHGAP45 p.Ala426Val Benign ★★ ⚠ same type
- ARHGAP45 p.Arg139His Benign ★★ same type
- ARHGAP45 p.Glu1090Gly Benign ★★ same type
- ARHGAP45 p.Gly1019Arg Likely benign ★★ same type
- ARHGAP45 p.Leu138= Benign ★★ same type
- ARHGAP45 p.Pro1011= Benign ★★ same type
- ARHGAP45 p.Ser1032= 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/arhgap45-p-val805 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown