L58S (p.Leu58Ser) variant of HMGCR (P04035)
L58S (p.Leu58Ser) 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.
L58S (p.Leu58Ser) variant details
- p.Leu58Ser
- gnomAD 5-75343860-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.47
- CADD 22.00
- PolyPhen-2 0.16
- SIFT 0.80
- Population evidence available
- Structural context available
- Literature evidence available