P75S (p.Pro75Ser) variant of OTC (P00480)
P75S (p.Pro75Ser) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P75S (p.Pro75Ser) variant details
- p.Pro75Ser
- gnomAD X-38369802-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.56
- MetaLR 0.92
- MetaSVM 0.96
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available