P75H (p.Pro75His) variant of OTC (P00480)
P75H (p.Pro75His) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P75H (p.Pro75His) variant details
- p.Pro75His
- gnomAD X-38369803-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.75
- MetaLR 0.95
- MetaSVM 1.03
- CADD 25.80
- PolyPhen-2 0.92
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available