L104P (p.Leu104Pro) variant of CDKN1C (P49918)
L104P (p.Leu104Pro) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L104P (p.Leu104Pro) variant details
- p.Leu104Pro
- gnomAD 11-2884064-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- MetaLR 0.33
- MetaSVM -0.82
- CADD 8.64
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available