R92* (p.Arg92Ter) variant of CDKN1C (P49918)
R92* (p.Arg92Ter) in CDKN1C (P49918) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R92* (p.Arg92Ter) variant details
- p.Arg92Ter
- gnomAD 11-2884116-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available