L65P (p.Leu65Pro) variant of HMGCR (P04035)
L65P (p.Leu65Pro) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L65P (p.Leu65Pro) variant details
- p.Leu65Pro
- gnomAD 5-75343881-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.91
- CADD 29.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available