I157S (p.Ile157Ser) variant of KCNJ5 (P48544)
I157S (p.Ile157Ser) 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 0.89 / 1. The record also includes published literature and structural context.
I157S (p.Ile157Ser) variant details
- p.Ile157Ser
- rs587777438
- ClinGen CA163133
- ClinVar RCV000122752
- UniProt VAR 077578
- Pathogenic
- Familial hyperaldosteronism type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Familial hyperaldosteronism type III)
- EBI: Pathogenic (in HALD3)
- UniProt: Pathogenic (in HALD3)
- Structural context available
- Cited in: A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant… (PMID 22628607)
- Cited in: K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. (PMID 21311022)