V21I (p.Val21Ile) variant of KCNE1 (P15382)
V21I (p.Val21Ile) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Long QT syndrome; Cardiovascular phenotype; Long QT syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V21I (p.Val21Ile) variant details
- p.Val21Ile
- rs1308048353
- ClinGen CA410198554
- ClinVar RCV004522761
- ClinVar RCV004780727
- Conflicting interpretations
- Long QT syndrome; Cardiovascular phenotype; Long QT syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Long QT syndrome; Cardiovascular phenotype; Long QT syndrome 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00076)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.6
- Cited in: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)