L74P (p.Leu74Pro) variant of HMGCR (P04035)
L74P (p.Leu74Pro) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L74P (p.Leu74Pro) variant details
- p.Leu74Pro
- gnomAD 5-75343908-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.95
- CADD 29.40
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available