S59N (p.Ser59Asn) variant of HMGCR (P04035)
S59N (p.Ser59Asn) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S59N (p.Ser59Asn) variant details
- p.Ser59Asn
- gnomAD 5-75343863-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.47
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available