A129V (p.Ala129Val) variant of MMUT (P22033)
A129V (p.Ala129Val) in MMUT (P22033) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
A129V (p.Ala129Val) variant details
- p.Ala129Val
- gnomAD rs1180569537
- Uncertain significance
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available