T26S (p.Thr26Ser) variant of HMGCR (P04035)
T26S (p.Thr26Ser) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T26S (p.Thr26Ser) variant details
- p.Thr26Ser
- gnomAD 5-75342681-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.26
- CADD 25.10
- PolyPhen-2 0.71
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available