K48P (p.Lys48Pro) variant of CDK12 (Cyclin-dependent kinase 12)
K48P (p.Lys48Pro) in CDK12 (Cyclin-dependent kinase 12) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K48P (p.Lys48Pro) variant details
- p.Lys48Pro
- gnomAD 17-39462207-A-AAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 29.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available