C100* (p.Cys100Ter) variant of CDKN1C (P49918)
C100* (p.Cys100Ter) in CDKN1C (P49918) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C100* (p.Cys100Ter) variant details
- p.Cys100Ter
- gnomAD 11-2884009-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 15.30
- Population evidence available
- Structural context available
- Literature evidence available