R99L (p.Arg99Leu) variant of CDKN1C (P49918)
R99L (p.Arg99Leu) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R99L (p.Arg99Leu) variant details
- p.Arg99Leu
- gnomAD 11-2884094-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 7.58
- Population evidence available
- Structural context available
- Literature evidence available