A141V (p.Ala141Val) variant of MMUT (P22033)
A141V (p.Ala141Val) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; Meth. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A141V (p.Ala141Val) variant details
- p.Ala141Val
- rs565348836
- ClinGen CA3847112
- NCI-TCGA Cosmic COSV5128
- ClinVar RCV001211091
- Conflicting interpretations
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; Meth
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.87
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)