G65S (p.Gly65Ser) variant of KCNJ5 (P48544)
G65S (p.Gly65Ser) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G65S (p.Gly65Ser) variant details
- p.Gly65Ser
- rs1356200702
- ClinGen CA383246486
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.65
- MetaLR 0.86
- MetaSVM 0.77
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- 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)