A17P (p.Ala17Pro) variant of CDK12 (Cyclin-dependent kinase 12)
A17P (p.Ala17Pro) 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 published literature.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- gnomAD 17-39462120-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.21
- CADD 25.30
- PolyPhen-2 0.94
- SIFT 0.09
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Literature evidence available