G623R (p.Gly623Arg) variant of MMUT (P22033)
G623R (p.Gly623Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Methylmalonic aciduria due to complete methylmalonyl-CoA mutase de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G623R (p.Gly623Arg) variant details
- p.Gly623Arg
- rs121918254
- ClinGen CA364395226
- ClinVar RCV000673187
- ClinVar RCV003558522
- Pathogenic
- not provided; Methylmalonic aciduria due to complete methylmalonyl-CoA mutase de
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.97
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms… (PMID 15643616)
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)