H36Q (p.His36Gln) variant of CDK12 (Cyclin-dependent kinase 12)
H36Q (p.His36Gln) in CDK12 (Cyclin-dependent kinase 12) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H36Q (p.His36Gln) variant details
- p.His36Gln
- TOPMed rs987591285
- gnomAD rs987591285
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.29
- CADD 23.20
- PolyPhen-2 0.94
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available