T40M (p.Thr40Met) variant of KCNJ5 (P48544)
T40M (p.Thr40Met) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Familial hyperaldosteronism type III; Long QT syndrome 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
T40M (p.Thr40Met) variant details
- p.Thr40Met
- rs185412918
- ClinGen CA6357823
- cosmic curated COSV10061
- ClinVar RCV001308690
- Conflicting interpretations
- not specified; Familial hyperaldosteronism type III; Long QT syndrome 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.54
- MetaLR 0.76
- MetaSVM 0.52
- CADD 23.20
- PolyPhen-2 0.83
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not specified; Familial hyperaldosteronism type III; Long QT syn)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)