T24S (p.Thr24Ser) variant of HMGCR (P04035)
T24S (p.Thr24Ser) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T24S (p.Thr24Ser) variant details
- p.Thr24Ser
- gnomAD 5-75342675-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.27
- CADD 26.50
- PolyPhen-2 0.89
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available