S50Y (p.Ser50Tyr) variant of CDK12 (Cyclin-dependent kinase 12)
S50Y (p.Ser50Tyr) 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 0.39 / 1. The record also includes population frequency data and structural context.
S50Y (p.Ser50Tyr) variant details
- p.Ser50Tyr
- ExAC rs774720192
- gnomAD rs774720192
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.17
- CADD 25.30
- PolyPhen-2 0.98
- 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