K56N (p.Lys56Asn) variant of KCNJ5 (P48544)
K56N (p.Lys56Asn) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hyperaldosteronism type III; Long QT syndrome 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
K56N (p.Lys56Asn) variant details
- p.Lys56Asn
- rs1253531265
- NCI-TCGA Cosmic COSV5796
- cosmic curated COSV57963
- Uncertain significance
- Familial hyperaldosteronism type III; Long QT syndrome 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.91
- MetaLR 0.96
- MetaSVM 1.07
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hyperaldosteronism type III; Long QT syndrome 13)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available