S613F (p.Ser613Phe) variant of SLC4A1 (Band 3 anion transport protein)
S613F (p.Ser613Phe) 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 Autosomal dominant distal renal tubular acidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
S613F (p.Ser613Phe) variant details
- p.Ser613Phe
- rs121912746
- ClinGen CA127389
- ClinVar RCV000019342
- UniProt VAR 015107
- Pathogenic
- Autosomal dominant distal renal tubular acidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- MutPred 0.94
- ClinVar: Pathogenic (Autosomal dominant distal renal tubular acidosis)
- EBI: Pathogenic (in DRTA1)
- UniProt: Pathogenic (in DRTA1)
- Structural context available
- Cited in: Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. (PMID 9312167)
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)