L57Q (p.Leu57Gln) variant of OTC (P00480)
L57Q (p.Leu57Gln) 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 0.94 / 1. The record also includes structural context.
L57Q (p.Leu57Gln) variant details
- p.Leu57Gln
- rs72554321
- ClinGen CA224488
- ClinVar RCV000083355
- Ensembl rs72554321
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available