I64V (p.Ile64Val) variant of HMGCR (P04035)
I64V (p.Ile64Val) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I64V (p.Ile64Val) variant details
- p.Ile64Val
- gnomAD 5-75343877-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.30
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.75
- Population evidence available
- Structural context available
- Literature evidence available