R589H (p.Arg589His) variant of SLC4A1 (Band 3 anion transport protein)
R589H (p.Arg589His) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dominant distal ren. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R589H (p.Arg589His) variant details
- p.Arg589His
- rs121912744
- ClinGen CA127387
- ClinVar RCV000019340
- ClinVar RCV001387018
- Pathogenic
- Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dominant distal ren
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- MutPred 0.95
- ClinVar: Pathogenic (Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dom)
- EBI: Pathogenic (in DRTA1)
- UniProt: Pathogenic (in DRTA1)
- Structural context available
- Cited in: Dominant inheritance in a family with familial renal tubular acidosis. (PMID 4116984)
- Cited in: Immune-related potassium-losing interstitial nephritis: a comparison with distal renal tubular acidosis. (PMID 8210309)