p.Ala17 Ser18insPhe variant of CDK12 (Cyclin-dependent kinase 12)
p.Ala17 Ser18insPhe in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and published literature.
p.Ala17 Ser18insPhe variant details
- gnomAD 17-39462121-C-CCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 19.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available