I63V (p.Ile63Val) variant of HMGCR (P04035)
I63V (p.Ile63Val) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
I63V (p.Ile63Val) variant details
- p.Ile63Val
- gnomAD 5-75343874-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.49
- CADD 21.30
- PolyPhen-2 0.03
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available