P121H (p.Pro121His) variant of CDKN1C (P49918)
P121H (p.Pro121His) in CDKN1C (P49918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P121H (p.Pro121His) variant details
- p.Pro121His
- rs1405293895
- gnomAD 11-2884025-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- MetaLR 0.51
- MetaSVM -0.12
- CADD 13.20
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available