Y75C (p.Tyr75Cys) variant of HMGCR (P04035)
Y75C (p.Tyr75Cys) in HMGCR (P04035) 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.
Y75C (p.Tyr75Cys) variant details
- p.Tyr75Cys
- gnomAD 5-75343911-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.95
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available