C70* (p.Cys70Ter) variant of HMGCR (P04035)
C70* (p.Cys70Ter) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C70* (p.Cys70Ter) variant details
- p.Cys70Ter
- gnomAD 5-75343897-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available