T158A (p.Thr158Ala) variant of KCNJ5 (P48544)
T158A (p.Thr158Ala) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aldosterone-producing adrenal adenoma, somatic; Familial hyperaldosteronism type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
T158A (p.Thr158Ala) variant details
- p.Thr158Ala
- rs387906778
- ClinGen CA128954
- cosmic curated COSV57963
- ClinVar RCV000023035
- Pathogenic
- Aldosterone-producing adrenal adenoma, somatic; Familial hyperaldosteronism type
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 0.77
- MetaLR 0.85
- MetaSVM 0.72
- PolyPhen-2 0.08
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Aldosterone-producing adrenal adenoma, somatic; Familial hyperal)
- EBI: Pathogenic (in HALD3)
- UniProt: Pathogenic (in HALD3)
- Structural context available
- Cited in: K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. (PMID 21311022)
- Cited in: KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. (PMID 22203740)