M1L (p.Met1Leu) variant of OTC (P00480)
M1L (p.Met1Leu) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs67752076
- ClinGen CA224496
- ClinVar RCV000083360
- Pathogenic
- not provided
- 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: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available