L86P (p.Leu86Pro) variant of HMGCR (P04035)
L86P (p.Leu86Pro) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L86P (p.Leu86Pro) variant details
- p.Leu86Pro
- gnomAD 5-75343944-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.76
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available