S50F (p.Ser50Phe) variant of CDK12 (Cyclin-dependent kinase 12)
S50F (p.Ser50Phe) 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.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- gnomAD 17-39462220-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.18
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available