Y73H (p.Tyr73His) variant of OTC (P00480)
Y73H (p.Tyr73His) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Y73H (p.Tyr73His) variant details
- p.Tyr73His
- gnomAD X-38369796-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.37
- MetaLR 0.85
- MetaSVM 0.59
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available