C70C (p.Cys70Cys) variant of HMGCR (P04035)
C70C (p.Cys70Cys) in HMGCR (P04035) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C70C (p.Cys70Cys) variant details
- p.Cys70Cys
- rs1199932455
- gnomAD 5-75343897-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 13.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available