S32C (p.Ser32Cys) variant of CDK12 (Cyclin-dependent kinase 12)
S32C (p.Ser32Cys) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S32C (p.Ser32Cys) variant details
- p.Ser32Cys
- gnomAD 17-39462165-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.26
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available