R99* (p.Arg99Ter) variant of CDKN1C (P49918)
R99* (p.Arg99Ter) in CDKN1C (P49918) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R99* (p.Arg99Ter) variant details
- p.Arg99Ter
- gnomAD 11-2884101-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.34
- CADD 28.20
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available