K43R (p.Lys43Arg) variant of CDK12 (Cyclin-dependent kinase 12)
K43R (p.Lys43Arg) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K43R (p.Lys43Arg) variant details
- p.Lys43Arg
- gnomAD 17-39462199-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.33
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available