N28S (p.Asn28Ser) variant of KCNJ2 (P63252)
N28S (p.Asn28Ser) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
N28S (p.Asn28Ser) variant details
- p.Asn28Ser
- rs2074384666
- ClinGen CA400859823
- NCI-TCGA Cosmic COSV9969
- cosmic curated COSV99696
- Uncertain significance
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -0.95
- PolyPhen-2 0.79
- SIFT 0.08
- MutPred 0.62
- ClinVar: Uncertain significance (Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)