L76S (p.Leu76Ser) variant of OTC (P00480)
L76S (p.Leu76Ser) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L76S (p.Leu76Ser) variant details
- p.Leu76Ser
- rs72554328
- ClinGen CA224505
- ClinVar RCV000083366
- ClinVar RCV005406814
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.77
- MetaLR 0.94
- MetaSVM 0.97
- CADD 23.30
- PolyPhen-2 0.67
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available