R490H (p.Arg490His) variant of SLC4A1 (Band 3 anion transport protein)
R490H (p.Arg490His) 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 not provided; Hereditary spherocytosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R490H (p.Arg490His) variant details
- p.Arg490His
- rs1598299485
- ClinGen CA399785928
- NCI-TCGA Cosmic COSV5226
- ClinVar RCV002550748
- Pathogenic
- not provided; Hereditary spherocytosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.87
- MetaLR 0.85
- MetaSVM 0.90
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hereditary spherocytosis type 4)
- EBI: Pathogenic (in SPH4)
- UniProt: Pathogenic (in SPH4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Arginine 490 is a hot spot for mutation in the band 3 gene in hereditary spherocytosis. (PMID 10580570)
- Cited in: Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. (PMID 10745622)