D56Y (p.Asp56Tyr) variant of HMGCR (P04035)
D56Y (p.Asp56Tyr) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D56Y (p.Asp56Tyr) variant details
- p.Asp56Tyr
- gnomAD 5-75343853-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.62
- CADD 33.00
- PolyPhen-2 0.64
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available