E246K (p.Glu246Lys) variant of KCNJ5 (P48544)
E246K (p.Glu246Lys) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hyperaldosteronism type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E246K (p.Glu246Lys) variant details
- p.Glu246Lys
- rs587777439
- ClinGen CA163136
- cosmic curated COSV10440
- ClinVar RCV000122753
- Pathogenic
- Familial hyperaldosteronism type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.40
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Pathogenic (Familial hyperaldosteronism type III)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a… (PMID 24420545)