RRAS p.Val166=
c.498G>A · rs1411684410 · VCV1744580
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 8.56e-05%, nfe)
Conditions
1
Noonan syndrome
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 0.71 | GERP 1.7, phastCons 0.88 |
| Overall | ||
| CADD | 11.23 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.56e-05%
European (non-Finnish) · 1/1,168,048 alleles
Overall
6.26e-05%
1/1,596,496 alleles · very rare
exomes 0/1,446,064 · genomes 1/150,432 · joint denominator
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.Val166=
- Coding
- c.498G>A
- MANE Select
- NM_006270
- dbSNP
- rs1411684410
- Type
- single nucleotide variant
- Location
- chr19:49635808 (GRCh38)
- Gene constraint
- LOEUF 1.175 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.79 · 2 PDB
Similar variants
- RRAS p.Val166Met Uncertain significance ★★ ⚠ same residue
- RRAS p.Ala109Thr Uncertain significance ★★ ⚠ same condition
- RRAS p.Ala162Thr Uncertain significance ★★ ⚠ same condition
- RRAS p.Ala205Val Uncertain significance ★★ ⚠ same condition
- RRAS p.Ala85Val Uncertain significance ★★ ⚠ same condition
- RRAS p.Arg113Gln Uncertain significance ★★ ⚠ same condition
- RRAS p.Arg128Gln Uncertain significance ★★ ⚠ same condition
- RRAS p.Arg132Cys Uncertain significance ★★ same condition
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-val166 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown