Q624R (p.Gln624Arg) variant of MMUT (P22033)
Q624R (p.Gln624Arg) 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 methylmalonyl-CoA mutase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Q624R (p.Gln624Arg) variant details
- p.Gln624Arg
- rs768521956
- ClinGen CA3846720
- ClinVar RCV001963033
- ClinVar RCV005635382
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.96
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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: Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel… (PMID 27167370)