S40L (p.Ser40Leu) variant of CDK12 (Cyclin-dependent kinase 12)
S40L (p.Ser40Leu) in CDK12 (Cyclin-dependent kinase 12) is a missense change. Clinical records from ClinVar 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 0.55 / 1. The record also includes population frequency data and structural context.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- ExAC rs780248349
- TOPMed rs780248349
- gnomAD rs780248349
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.37
- CADD 26.40
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available