I2F (p.Ile2Phe) variant of KCNE1 (P15382)
I2F (p.Ile2Phe) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I2F (p.Ile2Phe) variant details
- p.Ile2Phe
- rs756727116
- ClinGen CA320425583
- ClinVar RCV000800190
- ClinVar RCV004702428
- Uncertain significance
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00029)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.26
- 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)