A72D (p.Ala72Asp) variant of HMGCR (P04035)
A72D (p.Ala72Asp) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A72D (p.Ala72Asp) variant details
- p.Ala72Asp
- gnomAD 5-75343902-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.89
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available