R490C (p.Arg490Cys) variant of SLC4A1 (Band 3 anion transport protein)
R490C (p.Arg490Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R490C (p.Arg490Cys) variant details
- p.Arg490Cys
- rs1398477044
- ClinGen CA399785930
- NCI-TCGA Cosmic COSV5225
- NCI-TCGA Cosmic COSV5226
- Pathogenic/Likely pathogenic
- Hereditary spherocytosis type 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.85
- MetaLR 0.85
- MetaSVM 0.92
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spherocytosis type 4; not provided)
- EBI: Pathogenic (in SPH4)
- UniProt: Pathogenic (in SPH4)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects. (PMID 9233560)
- Cited in: Arginine 490 is a hot spot for mutation in the band 3 gene in hereditary spherocytosis. (PMID 10580570)