K51E (p.Lys51Glu) variant of CDK12 (Cyclin-dependent kinase 12)
K51E (p.Lys51Glu) 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 0.48 / 1. The record also includes population frequency data and structural context.
K51E (p.Lys51Glu) variant details
- p.Lys51Glu
- TOPMed rs2049008179
- gnomAD rs2049008179
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.43
- CADD 27.60
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available