D56G (p.Asp56Gly) variant of HMGCR (P04035)
D56G (p.Asp56Gly) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D56G (p.Asp56Gly) variant details
- p.Asp56Gly
- gnomAD 5-75343854-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.45
- CADD 26.60
- PolyPhen-2 0.14
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available