T8A (p.Thr8Ala) variant of KCNE2 (Q9Y6J6)
T8A (p.Thr8Ala) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Long QT syndrome, drug-associated; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- rs2234916
- ClinGen CA199953
- ClinVar RCV000058368
- ClinVar RCV000170566
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome, drug-associated; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.35
- MetaLR 0.77
- MetaSVM 0.70
- CADD 24.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome, drug-associated; not)
- EBI: Benign (in dbSNP:rs2234916)
- UniProt: Benign (in dbSNP:rs2234916)
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available
- Cited in: MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. (PMID 10219239)
- Cited in: Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT… (PMID 16922724)