S50C (p.Ser50Cys) variant of CDK12 (Cyclin-dependent kinase 12)
S50C (p.Ser50Cys) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S50C (p.Ser50Cys) variant details
- p.Ser50Cys
- gnomAD 17-39462220-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.13
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available