G39W (p.Gly39Trp) variant of HMGCR (P04035)
G39W (p.Gly39Trp) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G39W (p.Gly39Trp) variant details
- p.Gly39Trp
- gnomAD 5-75342718-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.791
- CADD 28.50
- Population evidence available
- Structural context available
- Literature evidence available