G23A (p.Gly23Ala) variant of HMGCR (P04035)
G23A (p.Gly23Ala) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G23A (p.Gly23Ala) variant details
- p.Gly23Ala
- gnomAD 5-75342673-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.27
- CADD 20.00
- PolyPhen-2 0.02
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available