R100* (p.Arg100Ter) variant of KCNA2 (P16389)
R100* (p.Arg100Ter) in KCNA2 (P16389) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
R100* (p.Arg100Ter) variant details
- p.Arg100Ter
- rs1649509389
- ClinGen CA341606001
- ClinVar RCV001250736
- Ensembl rs1649509389
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available