MRAS p.Leu63=
c.189G>A · rs2054708327 · VCV1542609
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00292%, afr)
Conditions
1
Inborn genetic diseases
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 4.7 | GERP 6.1, phastCons 1 |
| Overall | ||
| CADD | 9.304 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00292%
African / African-American · 2/68,486 alleles
Filtering AF
0.000485%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000181%
Overall
0.000136%
2/1,473,544 alleles · very rare
exomes 2/1,321,214 · genomes 0/152,330 · 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
- MRAS
- Protein
- p.Leu63=
- Coding
- c.189G>A
- MANE Select
- NM_001085049
- dbSNP
- rs2054708327
- Type
- single nucleotide variant
- Location
- chr3:138373072 (GRCh38)
- Gene constraint
- LOEUF 0.444 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 86.61 · 11 PDB
- Residue 63
- a β-strand
Similar variants
- MRAS p.Ala167Gly Uncertain significance ★★ ⚠ same condition
- MRAS p.Arg105Cys Uncertain significance ★★ ⚠ same condition
- MRAS p.Arg193Gln Uncertain significance ★★ ⚠ same condition
- MRAS p.Asn10Ser Uncertain significance ★★ ⚠ same condition
- MRAS p.Asn126Lys Uncertain significance ★★ ⚠ same condition
- MRAS p.Asn126Ser Uncertain significance ★★ ⚠ same condition
- MRAS p.Gln178Lys Uncertain significance ★★ ⚠ same condition
- MRAS p.Glu117Gly 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/mras-p-leu63 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown