H7Q (p.His7Gln) variant of CDK12 (Cyclin-dependent kinase 12)
H7Q (p.His7Gln) in CDK12 (Cyclin-dependent kinase 12) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
H7Q (p.His7Gln) variant details
- p.His7Gln
- rs1271674731
- gnomAD 17-39462091-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 25.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available