P117L (p.Pro117Leu) variant of CDKN1C (P49918)
P117L (p.Pro117Leu) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P117L (p.Pro117Leu) variant details
- p.Pro117Leu
- rs1802775
- gnomAD 11-2884052-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- MetaLR 0.34
- MetaSVM -0.76
- CADD 4.91
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available