I25F (p.Ile25Phe) variant of KCNJ5 (P48544)
I25F (p.Ile25Phe) in KCNJ5 (P48544) 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 0.46 / 1. The record also includes published literature and structural context.
I25F (p.Ile25Phe) variant details
- p.Ile25Phe
- rs2135998470
- ClinGen CA383245608
- ClinVar RCV001929410
- Ensembl rs2135998470
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.07
- MetaLR 0.52
- MetaSVM -0.39
- PolyPhen-2 0.41
- SIFT 0.02
- MutPred 0.23
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- 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)