RRAS p.Asp133=
c.399C>T · rs758071792 · VCV1736820
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0164%, 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 -7.4 | GERP -3.7 |
| Overall | ||
| CADD | 0.23 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0164%
Middle Eastern · 1/6,084 alleles
Filtering AF
0.00267%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00236%
Overall
0.00279%
45/1,613,996 alleles · ultra-rare
exomes 41/1,461,820 · genomes 4/152,176 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0164% | 6,084 |
| European (non-Finnish) | 0.00356% | 28,095 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,238 |
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
- RRAS
- Protein
- p.Asp133=
- Coding
- c.399C>T
- MANE Select
- NM_006270
- dbSNP
- rs758071792
- Type
- single nucleotide variant
- Location
- chr19:49636673 (GRCh38)
- Gene constraint
- LOEUF 1.175 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.79 · 2 PDB
Similar variants
- RRAS p.Asp133Asn Benign/Likely benign ★★ same residue
- RRAS p.Ala109Thr Uncertain significance ★★ ⚠ same type
- RRAS p.Ala162Thr Uncertain significance ★★ ⚠ same type
- RRAS p.Ala205Val Uncertain significance ★★ ⚠ same type
- RRAS p.Ala85Val Uncertain significance ★★ ⚠ same type
- RRAS p.Arg113Gln Uncertain significance ★★ ⚠ same type
- RRAS p.Arg128Gln Uncertain significance ★★ ⚠ same type
- RRAS p.Arg132Cys 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/rras-p-asp133 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown