K48T (p.Lys48Thr) variant of CDK12 (Cyclin-dependent kinase 12)
K48T (p.Lys48Thr) in CDK12 (Cyclin-dependent kinase 12) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K48T (p.Lys48Thr) variant details
- p.Lys48Thr
- 1000Genomes rs553421553
- ExAC rs553421553
- TOPMed rs553421553
- gnomAD rs553421553
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.32
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available