K89E (p.Lys89Glu) variant of HMGCR (P04035)
K89E (p.Lys89Glu) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
K89E (p.Lys89Glu) variant details
- p.Lys89Glu
- gnomAD 5-75343952-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.93
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available