Y46* (p.Tyr46Ter) variant of KCNE1 (P15382)
Y46* (p.Tyr46Ter) 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 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y46* (p.Tyr46Ter) variant details
- p.Tyr46Ter
- rs758346045
- ClinGen CA320425430
- ClinVar RCV000659247
- ClinVar RCV004777810
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.9e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.03
- Cited in: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)