ARHGAP6 p.Asp748=
c.2244C>T · rs1602721512 · VCV726164
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 7.3 | GERP 2.3, phastCons 1 |
| Overall | ||
| CADD | 11.01 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ARHGAP6
- Protein
- p.Asp748=
- Coding
- c.2244C>T
- MANE Select
- NM_013427
- dbSNP
- rs1602721512
- Type
- single nucleotide variant
- Location
- chrX:11142246 (GRCh38)
- Structure
- AlphaFold pLDDT 56.60
- Residue 748
- the 'disordered' region
Similar variants
- ARHGAP6 c.589-9G>T Likely benign ★★ same type
- ARHGAP6 p.Ala533= Benign ★★ same type
- ARHGAP6 p.Leu413= Benign ★★ same type
- ARHGAP6 p.Leu526= Benign ★★ same type
- ARHGAP6 p.Leu841= Benign ★★ same type
- ARHGAP6 p.Tyr190= Benign ★★ same type
- HCCS c.521+7A>G Benign/Likely benign ★★ same type
- AMELX p.Ala16Asp Likely pathogenic ★ 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/arhgap6-p-asp748 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown