S60G (p.Ser60Gly) variant of HMGCR (P04035)
S60G (p.Ser60Gly) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S60G (p.Ser60Gly) variant details
- p.Ser60Gly
- gnomAD 5-75343865-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available