T66K (p.Thr66Lys) variant of HMGCR (P04035)
T66K (p.Thr66Lys) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T66K (p.Thr66Lys) variant details
- p.Thr66Lys
- gnomAD 5-75343884-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.87
- CADD 25.90
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available