K52R (p.Lys52Arg) variant of MMUT (P22033)
K52R (p.Lys52Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K52R (p.Lys52Arg) variant details
- p.Lys52Arg
- Ensembl rs1767777883
- Uncertain significance
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.39
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available