D625N (p.Asp625Asn) variant of MMUT (P22033)
D625N (p.Asp625Asn) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.94 / 1. The record also includes structural context.
D625N (p.Asp625Asn) variant details
- p.Asp625Asn
- rs1767240242
- ClinGen CA364395196
- ClinVar RCV003567903
- TOPMed rs1767240242
- Likely pathogenic
- not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- SIFT 0.00
- MutPred 0.75
- ClinVar: Likely pathogenic (not provided; Methylmalonic aciduria due to methylmalonyl-CoA mu)
- EBI: Likely pathogenic (in MAMM)
- UniProt: Likely pathogenic (in MAMM)
- Structural context available