T66A (p.Thr66Ala) variant of HMGCR (P04035)
T66A (p.Thr66Ala) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
T66A (p.Thr66Ala) variant details
- p.Thr66Ala
- gnomAD 5-75343883-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.74
- CADD 25.60
- PolyPhen-2 0.56
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available