R760Q (p.Arg760Gln) variant of SLC4A1 (Band 3 anion transport protein)
R760Q (p.Arg760Gln) 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; Cryohydrocytosis; Autosomal dominant distal ren. 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.
R760Q (p.Arg760Gln) variant details
- p.Arg760Gln
- rs121912755
- ClinGen CA210834
- ClinVar RCV000019358
- ClinVar RCV002227042
- Pathogenic/Likely pathogenic
- Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dominant distal ren
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.90
- MetaLR 0.87
- MetaSVM 1.03
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dom)
- EBI: Pathogenic (in SPH4)
- UniProt: Pathogenic (in SPH4)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. (PMID 10745622)
- Cited in: Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger. (PMID 11208088)