H7R (p.His7Arg) variant of CDK12 (Cyclin-dependent kinase 12)
H7R (p.His7Arg) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
H7R (p.His7Arg) variant details
- p.His7Arg
- ExAC rs769992254
- TOPMed rs769992254
- gnomAD rs769992254
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.46
- CADD 25.60
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available