S32G (p.Ser32Gly) variant of CDK12 (Cyclin-dependent kinase 12)
S32G (p.Ser32Gly) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S32G (p.Ser32Gly) variant details
- p.Ser32Gly
- gnomAD 17-39462165-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.18
- CADD 27.20
- PolyPhen-2 0.91
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available