S40W (p.Ser40Trp) variant of CDK12 (Cyclin-dependent kinase 12)
S40W (p.Ser40Trp) 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 0.58 / 1. The record also includes population frequency data and structural context.
S40W (p.Ser40Trp) variant details
- p.Ser40Trp
- ExAC rs780248349
- TOPMed rs780248349
- gnomAD rs780248349
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.43
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available