V42* (p.Val42Ter) variant of CD80 (P33681)
V42* (p.Val42Ter) in CD80 (P33681) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V42* (p.Val42Ter) variant details
- p.Val42Ter
- gnomAD 3-119544844-CT-C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 14.00
- Population evidence available
- Structural context available
- Literature evidence available