A269V (p.Ala269Val) variant of MMUT (P22033)
A269V (p.Ala269Val) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A269V (p.Ala269Val) variant details
- p.Ala269Val
- rs767593892
- ClinGen CA3847033
- ClinVar RCV000625791
- ExAC rs767593892
- Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- MutPred 0.89
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)