p.His49 Lys51del variant of CDK12 (Cyclin-dependent kinase 12)
p.His49 Lys51del in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
p.His49 Lys51del variant details
- rs751800128
- gnomAD 17-39462209-GTCCA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 20.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available