K46E (p.Lys46Glu) variant of CDK12 (Cyclin-dependent kinase 12)
K46E (p.Lys46Glu) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- gnomAD 17-39462207-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.40
- CADD 28.80
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available