M79V (p.Met79Val) variant of MMUT (P22033)
M79V (p.Met79Val) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
M79V (p.Met79Val) variant details
- p.Met79Val
- rs751177187
- ClinGen CA3847154
- ClinVar RCV001329131
- ExAC rs751177187
- Uncertain significance
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.32
- CADD 4.45
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)