K48R (p.Lys48Arg) variant of CDK12 (Cyclin-dependent kinase 12)
K48R (p.Lys48Arg) in CDK12 (Cyclin-dependent kinase 12) is a missense change. Clinical records from ClinVar, EBI, 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 0.29 / 1. The record also includes population frequency data and structural context.
K48R (p.Lys48Arg) variant details
- p.Lys48Arg
- 1000Genomes rs553421553
- ExAC rs553421553
- TOPMed rs553421553
- gnomAD rs553421553
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.95
- SIFT 0.94
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available