G25V (p.Gly25Val) variant of KCNE1 (P15382)
G25V (p.Gly25Val) 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 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- rs2516764848
- ClinGen CA410198526
- ClinVar RCV003064627
- ClinVar RCV004779416
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 5.91
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.34
- 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)