ARHGAP44 p.Arg18=
c.54G>A · rs200875969 · VCV2508812
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000944%, nfe)
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 9.8 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 20.8 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000944%
European (non-Finnish) · 11/1,164,994 alleles
Filtering AF
0.000507%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00037%
Overall
0.000694%
11/1,585,358 alleles · very rare
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
- ARHGAP44
- Protein
- p.Arg18=
- Coding
- c.54G>A
- MANE Select
- NM_014859
- dbSNP
- rs200875969
- Type
- single nucleotide variant
- Location
- chr17:12894940 (GRCh38)
- Gene constraint
- LOEUF 0.605 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.39
- Residue 18
- the bar domain
Similar variants
- ARHGAP44 p.Gln414= Benign ★★ same type
- ARHGAP44 c.198+1G>A Uncertain significance ★ same type
- ARHGAP44 p.Ala128Val Uncertain significance ★ ⚠ same type
- ARHGAP44 p.Ala172Val Uncertain significance ★ ⚠ same type
- ARHGAP44 p.Ala186Thr Uncertain significance ★ ⚠ same type
- ARHGAP44 p.Ala304Val Uncertain significance ★ ⚠ same type
- ARHGAP44 p.Ala366Thr Uncertain significance ★ ⚠ same type
- ARHGAP44 p.Ala526Val 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/arhgap44-p-arg18 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown