D61E (p.Asp61Glu) variant of HMGCR (P04035)
D61E (p.Asp61Glu) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D61E (p.Asp61Glu) variant details
- p.Asp61Glu
- gnomAD 5-75343870-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.72
- CADD 24.10
- PolyPhen-2 0.92
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available