G703R (p.Gly703Arg) variant of MMUT (P22033)
G703R (p.Gly703Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G703R (p.Gly703Arg) variant details
- p.Gly703Arg
- rs121918255
- ClinGen CA115266
- ClinVar RCV000001962
- ClinVar RCV005089146
- Pathogenic
- Methylmalonic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.98
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic acidemia)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the African/African-American population (allele frequency 3e-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: Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria. (PMID 7909321)