D52G (p.Asp52Gly) variant of CDK12 (Cyclin-dependent kinase 12)
D52G (p.Asp52Gly) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D52G (p.Asp52Gly) variant details
- p.Asp52Gly
- gnomAD 17-39462226-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.28
- CADD 28.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available