M1V (p.Met1Val) variant of OTC (P00480)
M1V (p.Met1Val) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs67752076
- ClinGen CA224494
- ClinVar RCV000083359
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- MetaLR 0.90
- MetaSVM 0.85
- PolyPhen-2 0.14
- SIFT 0.03
- MutPred 0.94
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available