MRAS p.Pro44=
c.132C>T · VCV3697154
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00281%, 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 -0.57 | GERP -0.078, phastCons 0.02 |
| Overall | ||
| CADD | 9.562 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00281%
African / African-American · 2/71,110 alleles
Filtering AF
0.000467%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000175%
Overall
0.00045%
7/1,556,298 alleles · very rare
exomes 6/1,404,116 · genomes 1/152,182 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00281% | 35,555 |
| Remaining individualsnot grpmax-eligible | 0.00166% | 60,126 |
| European (non-Finnish) | 0.000347% | 288,506 |
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.Pro44=
- Coding
- c.132C>T
- MANE Select
- NM_001085049
- Type
- single nucleotide variant
- Location
- chr3:138373015 (GRCh38)
- Gene constraint
- LOEUF 0.444 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 86.61 · 11 PDB
- Residue 44
- a binding site
Similar variants
- MRAS p.Pro44Ser Uncertain significance ★★ ⚠ same residue
- 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
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-pro44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown