A377E (p.Ala377Glu) variant of MMUT (P22033)
A377E (p.Ala377Glu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A377E (p.Ala377Glu) variant details
- p.Ala377Glu
- rs121918250
- ClinGen CA115263
- ClinVar RCV000001956
- ClinVar RCV002512663
- Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.96
- CADD 27.70
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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: Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by… (PMID 1977311)