R808H (p.Arg808His) variant of SLC4A1 (Band 3 anion transport protein)
R808H (p.Arg808His) 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 Hereditary spherocytosis type 4; Autosomal dominant distal renal tubular acidosi. 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.
R808H (p.Arg808His) variant details
- p.Arg808His
- rs866727908
- ClinGen CA290925289
- NCI-TCGA Cosmic COSV5226
- Pathogenic/Likely pathogenic
- Hereditary spherocytosis type 4; Autosomal dominant distal renal tubular acidosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.91
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spherocytosis type 4; Autosomal dominant distal renal)
- EBI: Pathogenic (in SPH4)
- UniProt: Pathogenic (in SPH4)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. (PMID 10745622)
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)