S3* (p.Ser3Ter) variant of HMGCR (P04035)
S3* (p.Ser3Ter) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- gnomAD 5-75342613-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available