A320V (p.Ala320Val) variant of MMUT (P22033)
A320V (p.Ala320Val) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A320V (p.Ala320Val) variant details
- p.Ala320Val
- rs1581832011
- ClinGen CA364400846
- ClinVar RCV000987712
- Ensembl rs1581832011
- Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.95
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)