K43E (p.Lys43Glu) variant of CDK12 (Cyclin-dependent kinase 12)
K43E (p.Lys43Glu) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
K43E (p.Lys43Glu) variant details
- p.Lys43Glu
- ExAC rs746824859
- gnomAD rs746824859
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.41
- CADD 29.20
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available