G609R (p.Gly609Arg) variant of SLC4A1 (Band 3 anion transport protein)
G609R (p.Gly609Arg) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; Autosomal dominan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G609R (p.Gly609Arg) variant details
- p.Gly609Arg
- rs878853002
- ClinGen CA10581267
- ClinVar RCV000224119
- ClinVar RCV001328264
- Pathogenic/Likely pathogenic
- Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; Autosomal dominan
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.92
- MetaLR 0.79
- MetaSVM 0.78
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; A)
- EBI: Pathogenic (in DRTA1)
- UniProt: Pathogenic (in DRTA1)
- Population evidence available
- Structural context available
- Cited in: A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport… (PMID 14734552)
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)