N5* (p.Asn5Ter) variant of KCNE1 (P15382)
N5* (p.Asn5Ter) in KCNE1 (P15382) 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 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N5* (p.Asn5Ter) variant details
- p.Asn5Ter
- rs1131691762
- ClinGen CA645369791
- ClinVar RCV000493904
- ClinVar RCV000694374
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 24.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.9e-06)
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 0.916
- Cited in: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)