R602P (p.Arg602Pro) variant of SLC4A1 (Band 3 anion transport protein)
R602P (p.Arg602Pro) 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 Renal tubular acidosis, distal, 4, with hemolytic anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
R602P (p.Arg602Pro) variant details
- p.Arg602Pro
- rs121912754
- ClinGen CA127405
- ClinVar RCV000019357
- TOPMed rs121912754
- Pathogenic
- Renal tubular acidosis, distal, 4, with hemolytic anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- MutPred 0.99
- ClinVar: Pathogenic (Renal tubular acidosis, distal, 4, with hemolytic anemia)
- EBI: Pathogenic (in DRTA4)
- UniProt: Pathogenic (in DRTA4)
- Structural context available
- Cited in: Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. (PMID 15211439)
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)