R403G (p.Arg403Gly) variant of MMUT (P22033)
R403G (p.Arg403Gly) 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 methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R403G (p.Arg403Gly) variant details
- p.Arg403Gly
- rs727504020
- ClinGen CA3846942
- ClinVar RCV000625839
- ExAC rs727504020
- Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.97
- CADD 25.80
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)