D625A (p.Asp625Ala) variant of MMUT (P22033)
D625A (p.Asp625Ala) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.95 / 1. The record also includes published literature and structural context.
D625A (p.Asp625Ala) variant details
- p.Asp625Ala
- rs879253847
- ClinGen CA364395194
- ClinVar RCV001169874
- Ensembl rs879253847
- Pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- SIFT 0.00
- MutPred 0.79
- ClinVar: Pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)