A72G (p.Ala72Gly) variant of HMGCR (P04035)
A72G (p.Ala72Gly) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A72G (p.Ala72Gly) variant details
- p.Ala72Gly
- gnomAD 5-75343902-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.81
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available