R326G (p.Arg326Gly) variant of MMUT (P22033)
R326G (p.Arg326Gly) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R326G (p.Arg326Gly) variant details
- p.Arg326Gly
- rs1085308002
- ClinGen CA364400752
- ClinVar RCV000489116
- ClinVar RCV005632421
- Pathogenic/Likely pathogenic
- not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.95
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylmalonic aciduria due to methylmalonyl-CoA mu)
- 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: Isolated Methylmalonic Acidemia. (PMID 20301409)