A558V (p.Ala558Val) variant of MMUT (P22033)
A558V (p.Ala558Val) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A558V (p.Ala558Val) variant details
- p.Ala558Val
- rs1289671563
- ClinGen CA364396426
- ClinVar RCV001257418
- ClinVar RCV005909248
- Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.56
- CADD 25.50
- PolyPhen-2 0.07
- SIFT 0.17
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)