S75N (p.Ser75Asn) variant of KCNJ5 (P48544)
S75N (p.Ser75Asn) 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 13; Familial hyperaldosteronism type III; Cardiovascular phenot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S75N (p.Ser75Asn) variant details
- p.Ser75Asn
- rs892317617
- ClinGen CA230640418
- ClinVar RCV002014860
- ClinVar RCV002425364
- Uncertain significance
- Long QT syndrome 13; Familial hyperaldosteronism type III; Cardiovascular phenot
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.70
- MetaLR 0.87
- MetaSVM 0.92
- CADD 25.40
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Uncertain significance (Long QT syndrome 13; Familial hyperaldosteronism type III; Cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- 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)