C70F (p.Cys70Phe) variant of HMGCR (P04035)
C70F (p.Cys70Phe) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C70F (p.Cys70Phe) variant details
- p.Cys70Phe
- gnomAD rs1487837370
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.81
- CADD 29.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available