S4L (p.Ser4Leu) variant of CDK12 (Cyclin-dependent kinase 12)
S4L (p.Ser4Leu) in CDK12 (Cyclin-dependent kinase 12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- rs1246755126
- ClinGen CA398845737
- ClinVar RCV004148493
- gnomAD rs1246755126
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.28
- CADD 26.30
- PolyPhen-2 0.73
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available