K11E (p.Lys11Glu) variant of CDK12 (Cyclin-dependent kinase 12)
K11E (p.Lys11Glu) in CDK12 (Cyclin-dependent kinase 12) is a missense change. 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.
K11E (p.Lys11Glu) variant details
- p.Lys11Glu
- ExAC rs748073368
- gnomAD rs748073368
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.36
- CADD 27.60
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available