I705R (p.Ile705Arg) variant of MMUT (P22033)
I705R (p.Ile705Arg) 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 0.92 / 1. The record also includes published literature and structural context.
I705R (p.Ile705Arg) variant details
- p.Ile705Arg
- rs772888575
- ClinGen CA364394220
- ClinVar RCV000853349
- ExAC rs772888575
- Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.06
- SIFT 0.00
- MutPred 0.67
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)