V57A (p.Val57Ala) variant of HMGCR (P04035)
V57A (p.Val57Ala) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V57A (p.Val57Ala) variant details
- p.Val57Ala
- gnomAD 5-75343857-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.50
- CADD 22.50
- PolyPhen-2 0.11
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available