L86I (p.Leu86Ile) variant of HMGCR (P04035)
L86I (p.Leu86Ile) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L86I (p.Leu86Ile) variant details
- p.Leu86Ile
- gnomAD 5-75343943-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.21
- CADD 23.60
- PolyPhen-2 0.84
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available