V57D (p.Val57Asp) variant of HMGCR (P04035)
V57D (p.Val57Asp) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V57D (p.Val57Asp) variant details
- p.Val57Asp
- gnomAD 5-75343857-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.61
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available