K46R (p.Lys46Arg) variant of CDK12 (Cyclin-dependent kinase 12)
K46R (p.Lys46Arg) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K46R (p.Lys46Arg) variant details
- p.Lys46Arg
- gnomAD 17-39462208-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.19
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available