Q79K (p.Gln79Lys) variant of HMGCR (P04035)
Q79K (p.Gln79Lys) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Q79K (p.Gln79Lys) variant details
- p.Gln79Lys
- gnomAD 5-75343922-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.89
- CADD 25.10
- PolyPhen-2 0.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available