S24L (p.Ser24Leu) variant of CDK12 (Cyclin-dependent kinase 12)
S24L (p.Ser24Leu) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- gnomAD 17-39462142-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.23
- CADD 27.20
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available