Q85K (p.Gln85Lys) variant of HMGCR (P04035)
Q85K (p.Gln85Lys) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q85K (p.Gln85Lys) variant details
- p.Gln85Lys
- gnomAD 5-75343940-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.44
- CADD 19.70
- PolyPhen-2 0.03
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available