S88* (p.Ser88Ter) variant of HMGCR (P04035)
S88* (p.Ser88Ter) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S88* (p.Ser88Ter) variant details
- p.Ser88Ter
- gnomAD 5-75343950-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available