T30I (p.Thr30Ile) variant of KCNE2 (Q9Y6J6)
T30I (p.Thr30Ile) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T30I (p.Thr30Ile) variant details
- p.Thr30Ile
- rs772975913
- ClinGen CA320365711
- ClinVar RCV002030302
- ExAC rs772975913
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.57
- MetaSVM -0.23
- CADD 12.80
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)