T24R (p.Thr24Arg) variant of HMGCR (P04035)
T24R (p.Thr24Arg) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
T24R (p.Thr24Arg) variant details
- p.Thr24Arg
- gnomAD 5-75342676-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.57
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available