R403Q (p.Arg403Gln) variant of MMUT (P22033)
R403Q (p.Arg403Gln) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R403Q (p.Arg403Gln) variant details
- p.Arg403Gln
- rs774457503
- ClinGen CA3846941
- NCI-TCGA Cosmic COSV5127
- ClinVar RCV000665213
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.95
- CADD 28.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)