S88P (p.Ser88Pro) variant of HMGCR (P04035)
S88P (p.Ser88Pro) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S88P (p.Ser88Pro) variant details
- p.Ser88Pro
- gnomAD 5-75343949-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available