G717V (p.Gly717Val) variant of MMUT (P22033)
G717V (p.Gly717Val) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G717V (p.Gly717Val) variant details
- p.Gly717Val
- rs121918252
- ClinGen CA249729
- ClinVar RCV000001958
- ClinVar RCV000078445
- Pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.95
- AlphaMissense 0.94
- MetaLR 1.00
- MetaSVM 0.91
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Cited in: Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut… (PMID 1346616)
- Cited in: Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase. (PMID 1351030)