P117H (p.Pro117His) variant of CDKN1C (P49918)
P117H (p.Pro117His) 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.
P117H (p.Pro117His) variant details
- p.Pro117His
- rs1802775
- gnomAD 11-2884052-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- MetaLR 0.41
- MetaSVM -0.46
- CADD 4.42
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available