P75L (p.Pro75Leu) variant of OTC (P00480)
P75L (p.Pro75Leu) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- gnomAD X-38369803-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.78
- MetaLR 0.93
- MetaSVM 0.99
- CADD 28.70
- PolyPhen-2 0.49
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available