T28P (p.Thr28Pro) variant of HMGCR (P04035)
T28P (p.Thr28Pro) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T28P (p.Thr28Pro) variant details
- p.Thr28Pro
- gnomAD 5-75342687-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.69
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available