RRAS p.Ser52=
c.156C>T · VCV3947810
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00195%, nfe)
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 2.9 | GERP -0.64, phastCons 1 |
| Overall | ||
| CADD | 14.69 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00195%
European (non-Finnish) · 23/1,178,778 alleles
Filtering AF
0.0013%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00109%
Overall
0.00155%
25/1,610,800 alleles · very rare
exomes 25/1,458,610 · genomes 0/152,190 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00195% | 51,251 |
| Admixed American | 0.00168% | 59,698 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,426 |
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.Ser52=
- Coding
- c.156C>T
- MANE Select
- NM_006270
- Type
- single nucleotide variant
- Location
- chr19:49637128 (GRCh38)
- Gene constraint
- LOEUF 1.175 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.79 · 2 PDB
Similar variants
- 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
- RRAS p.Arg132His 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-ser52 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown