S25L (p.Ser25Leu) variant of CDK12 (Cyclin-dependent kinase 12)
S25L (p.Ser25Leu) 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 0.46 / 1. The record also includes population frequency data and structural context.
S25L (p.Ser25Leu) variant details
- p.Ser25Leu
- ExAC rs763482961
- TOPMed rs763482961
- gnomAD rs763482961
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.21
- CADD 28.10
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available