C70S (p.Cys70Ser) variant of HMGCR (P04035)
C70S (p.Cys70Ser) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C70S (p.Cys70Ser) variant details
- p.Cys70Ser
- gnomAD 5-75343896-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.78
- CADD 23.40
- PolyPhen-2 0.38
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available