C44L (p.Cys44Leu) variant of HMGCR (P04035)
C44L (p.Cys44Leu) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
C44L (p.Cys44Leu) variant details
- p.Cys44Leu
- gnomAD 5-75342734-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available