H49Q (p.His49Gln) variant of CDK12 (Cyclin-dependent kinase 12)
H49Q (p.His49Gln) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
H49Q (p.His49Gln) variant details
- p.His49Gln
- 1000Genomes rs571927153
- ExAC rs571927153
- TOPMed rs571927153
- gnomAD rs571927153
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.33
- CADD 23.60
- PolyPhen-2 0.94
- SIFT 0.12
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available