E130* (p.Glu130Ter) variant of CDKN1C (P49918)
E130* (p.Glu130Ter) in CDKN1C (P49918) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E130* (p.Glu130Ter) variant details
- p.Glu130Ter
- rs1363802623
- gnomAD 11-2884005-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 17.30
- Population evidence available
- Structural context available
- Literature evidence available