V57I (p.Val57Ile) variant of HMGCR (P04035)
V57I (p.Val57Ile) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V57I (p.Val57Ile) variant details
- p.Val57Ile
- TOPMed rs1760111571
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.34
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.41
- Population evidence available
- Structural context available