R97* (p.Arg97Ter) variant of KCNA2 (P16389)
R97* (p.Arg97Ter) in KCNA2 (P16389) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R97* (p.Arg97Ter) variant details
- p.Arg97Ter
- rs2524622426
- ClinGen CA341606039
- ClinVar RCV003043659
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available