V136F (p.Val136Phe) variant of MMUT (P22033)
V136F (p.Val136Phe) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Methylmalonic aciduria due to complete methylmalonyl-CoA mutase de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
V136F (p.Val136Phe) variant details
- p.Val136Phe
- rs1767739165
- ClinGen CA364404792
- ClinVar RCV001384464
- TOPMed rs1767739165
- Pathogenic/Likely pathogenic
- not provided; Methylmalonic aciduria due to complete methylmalonyl-CoA mutase de
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- MutPred 0.81
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylmalonic aciduria due to complete methylmalon)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available