R73* (p.Arg73Ter) variant of KCNA2 (P16389)
R73* (p.Arg73Ter) in KCNA2 (P16389) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R73* (p.Arg73Ter) variant details
- p.Arg73Ter
- rs1570753974
- ClinGen CA341606364
- NCI-TCGA Cosmic COSV6036
- cosmic curated COSV60369
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available