W17* (p.Trp17Ter) variant of KCNE1 (P15382)
W17* (p.Trp17Ter) 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 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W17* (p.Trp17Ter) variant details
- p.Trp17Ter
- rs1244688796
- ClinGen CA410198579
- cosmic curated COSV10590
- ClinVar RCV000659249
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.823
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.35
- Cited in: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)