MRAS p.Pro12=
c.36C>T · rs2474072054 · VCV2736858
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 | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP 6.2, phastCons 1 |
| Overall | ||
| CADD | 13.14 | 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
- MRAS
- Protein
- p.Pro12=
- Coding
- c.36C>T
- MANE Select
- NM_001085049
- dbSNP
- rs2474072054
- Type
- single nucleotide variant
- Location
- chr3:138372919 (GRCh38)
- Gene constraint
- LOEUF 0.444 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 86.61 · 11 PDB
Similar variants
- MRAS p.Pro12Ser Uncertain significance ★★ same residue
- MRAS p.Pro12Arg Uncertain significance ★ same residue
- MRAS p.Gln71Arg Likely pathogenic ★★★ same type
- MRAS p.Gly23Arg Likely pathogenic ★★★ same type
- MRAS p.Gly23Val Likely pathogenic ★★★ same type
- MRAS p.Thr68Ile Likely pathogenic ★★★ same type
- MRAS p.Gln59= Benign ★★★ same type
- MRAS p.Pro151= Benign ★★★ 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/mras-p-pro12 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown