T66I (p.Thr66Ile) variant of HMGCR (P04035)
T66I (p.Thr66Ile) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T66I (p.Thr66Ile) variant details
- p.Thr66Ile
- gnomAD 5-75343884-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.80
- CADD 23.90
- PolyPhen-2 0.33
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available