R92L (p.Arg92Leu) variant of CDKN1C (P49918)
R92L (p.Arg92Leu) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R92L (p.Arg92Leu) variant details
- p.Arg92Leu
- gnomAD 11-2884106-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available