ARHGAP44 p.Ser670=
c.2010C>T · rs200711620 · VCV2603139
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0501%, mid)
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 -4.7 | GERP -3.8 |
| Overall | ||
| CADD | 1.534 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0501%
Middle Eastern · 3/5,984 alleles
Filtering AF
0.0136%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00727%
Overall
0.00448%
72/1,606,252 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0501% | 1,995 |
| Admixed American | 0.0168% | 5,945 |
| African / African-American | 0.00533% | 18,749 |
| Finnishnot grpmax-eligible | 0.00481% | 20,805 |
| European (non-Finnish) | 0.00408% | 24,517 |
| Remaining individualsnot grpmax-eligible | 0.00322% | 31,061 |
| East Asian | 0.00223% | 44,818 |
| South Asian | 0.00111% | 89,926 |
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.Ser670=
- Coding
- c.2010C>T
- MANE Select
- NM_014859
- dbSNP
- rs200711620
- Type
- single nucleotide variant
- Location
- chr17:12984601 (GRCh38)
- Gene constraint
- LOEUF 0.605 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.39
- Residue 670
- the 'disordered' region
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-ser670 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown