G94V (p.Gly94Val) variant of MMUT (P22033)
G94V (p.Gly94Val) 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.
G94V (p.Gly94Val) variant details
- p.Gly94Val
- rs535411418
- ClinGen CA3847145
- ClinVar RCV000814597
- ClinVar RCV001091104
- Pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.99
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- 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: Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for… (PMID 9285782)