S33P (p.Ser33Pro) variant of HMGCR (P04035)
S33P (p.Ser33Pro) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S33P (p.Ser33Pro) variant details
- p.Ser33Pro
- gnomAD 5-75342702-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.39
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available