G606R (p.Gly606Arg) variant of SLC4A1 (Band 3 anion transport protein)
G606R (p.Gly606Arg) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant distal renal tubular acidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G606R (p.Gly606Arg) variant details
- p.Gly606Arg
- rs575655181
- ClinGen CA290929081
- ClinVar RCV004555720
- TOPMed rs575655181
- Likely pathogenic
- Autosomal dominant distal renal tubular acidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.94
- MetaLR 0.77
- MetaSVM 0.72
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant distal renal tubular acidosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5.4e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)