M27V (p.Met27Val) variant of KCNE1 (P15382)
M27V (p.Met27Val) 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 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M27V (p.Met27Val) variant details
- p.Met27Val
- rs755452452
- ClinGen CA320425506
- ClinVar RCV001367561
- ClinVar RCV004779102
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.37
- MetaSVM -0.62
- MutPred 0.21
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.36
- 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)