ARAP3 p.Arg936Trp
c.2806C>T · rs145752053 · VCV161761
Computational evidence
| Protein change | ||
| AlphaMissense | 0.4195 | ambiguous |
|---|---|---|
| REVEL | 0.208 | benign-leaning |
| SaProt | LLR -8.60 | tolerated |
| ⇒ REVEL and SaProt both call this tolerated; AlphaMissense makes no call. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.4 | GERP 0.3, phastCons 1 |
| Regional constraint | o/e 0.86 | unconstrained · MANE · 18 kb · p 1.3e-06 · regional, not allelic |
| Overall | ||
| CADD | 27.3 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00167% | 59,984 |
| South Asian | 0.0011% | 91,080 |
| European (non-Finnish) | 0.000678% | 147,497 |
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
- ARAP3
- Protein
- p.Arg936Trp
- Coding
- c.2806C>T
- MANE Select
- NM_022481
- dbSNP
- rs145752053
- Type
- single nucleotide variant
- Location
- chr5:141662250 (GRCh38)
- Gene constraint
- LOEUF 0.598 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 68.20 · 7 PDB
- Residue 936
- the rho-gap domain; a turn
Similar variants
- ARAP3 p.Ala1045Val Uncertain significance ★ ⚠ same type
- ARAP3 p.Ala10Thr Uncertain significance ★ ⚠ same type
- ARAP3 p.Ala1159Val Uncertain significance ★ ⚠ same type
- ARAP3 p.Ala1276Ser Uncertain significance ★ ⚠ same type
- ARAP3 p.Ala1342Thr Uncertain significance ★ ⚠ same type
- ARAP3 p.Ala216Asp Uncertain significance ★ ⚠ same type
- ARAP3 p.Ala22Val Uncertain significance ★ ⚠ same type
- ARAP3 p.Ala36Thr 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/arap3-p-arg936trp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown