A8S (p.Ala8Ser) variant of KCNE1 (P15382)
A8S (p.Ala8Ser) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- rs2516765228
- ClinGen CA410198628
- ClinVar RCV003053606
- ClinVar RCV004779405
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT5)
- UniProt: Uncertain significance (in LQT5)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.39
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)