L58F (p.Leu58Phe) variant of HMGCR (P04035)
L58F (p.Leu58Phe) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- gnomAD 5-75343861-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.57
- CADD 21.80
- PolyPhen-2 0.39
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available