S17L (p.Ser17Leu) variant of CDK9 (Cyclin-dependent kinase 9)
S17L (p.Ser17Leu) in CDK9 (Cyclin-dependent kinase 9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- rs1829296634
- gnomAD 9-127785921-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 21.00
- Population evidence available
- Structural context available
- Literature evidence available