P95R (p.Pro95Arg) variant of MMUT (P22033)
P95R (p.Pro95Arg) in MMUT (P22033) is a missense change. The available record places it in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
P95R (p.Pro95Arg) variant details
- p.Pro95Arg
- rs190834116
- ClinGen CA347886
- ClinVar RCV000203360
- UniProt VAR 026595
- not provided
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- MutPred 0.88
- ClinVar: not provided (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Population evidence available
- Structural context available
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)