H45R (p.His45Arg) variant of CDK12 (Cyclin-dependent kinase 12)
H45R (p.His45Arg) 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 0.42 / 1. The record also includes population frequency data and structural context.
H45R (p.His45Arg) variant details
- p.His45Arg
- ExAC rs770625855
- TOPMed rs770625855
- gnomAD rs770625855
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.27
- CADD 24.40
- PolyPhen-2 0.92
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available