Y90H (p.Tyr90His) variant of HMGCR (P04035)
Y90H (p.Tyr90His) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y90H (p.Tyr90His) variant details
- p.Tyr90His
- gnomAD 5-75343955-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.92
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available