R65* (p.Arg65Ter) variant of KCNA2 (P16389)
R65* (p.Arg65Ter) 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 0.62 / 1. The record also includes population frequency data and structural context.
R65* (p.Arg65Ter) variant details
- p.Arg65Ter
- rs763353895
- ClinGen CA1000750
- NCI-TCGA Cosmic COSV6037
- cosmic curated COSV60370
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available