S59R (p.Ser59Arg) variant of HMGCR (P04035)
S59R (p.Ser59Arg) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S59R (p.Ser59Arg) variant details
- p.Ser59Arg
- gnomAD 5-75343864-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.72
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available