L57R (p.Leu57Arg) variant of OTC (P00480)
L57R (p.Leu57Arg) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L57R (p.Leu57Arg) variant details
- p.Leu57Arg
- gnomAD X-38367383-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.04
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available