I57M (p.Ile57Met) variant of KCNE2 (Q9Y6J6)
I57M (p.Ile57Met) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I57M (p.Ile57Met) variant details
- p.Ile57Met
- rs146053586
- ClinGen CA10013418
- ClinVar RCV001050335
- ClinVar RCV005652497
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.53
- MetaSVM -0.12
- CADD 1.63
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome 6)
- EBI: Variant of uncertain significance (in LQT6)
- UniProt: Uncertain significance (in LQT6)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)