R50P (p.Arg50Pro) variant of KCNJ5 (P48544)
R50P (p.Arg50Pro) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
R50P (p.Arg50Pro) variant details
- p.Arg50Pro
- rs748152068
- ClinGen CA6357830
- ClinVar RCV002223471
- ClinVar RCV003647860
- Uncertain significance
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.60
- MetaLR 0.78
- MetaSVM 0.70
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.29
- ClinVar: Uncertain significance (not provided; 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)