I76V (p.Ile76Val) variant of HMGCR (P04035)
I76V (p.Ile76Val) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I76V (p.Ile76Val) variant details
- p.Ile76Val
- gnomAD 5-75343913-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.63
- CADD 22.80
- PolyPhen-2 0.47
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available