G670R (p.Gly670Arg) variant of MMUT (P22033)
G670R (p.Gly670Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.90 / 1. The record also includes population frequency data and structural context.
G670R (p.Gly670Arg) variant details
- p.Gly670Arg
- rs2481301140
- ClinGen CA364394550
- ClinVar RCV003555272
- Likely pathogenic
- not provided; Methylmalonic aciduria due to complete methylmalonyl-CoA mutase de
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.99
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Methylmalonic aciduria due to complete methylmalon)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available