G130R (p.Gly130Arg) variant of SLC4A1 (Band 3 anion transport protein)
G130R (p.Gly130Arg) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G130R (p.Gly130Arg) variant details
- p.Gly130Arg
- rs121912749
- ClinGen CA127394
- ClinVar RCV000019346
- ClinVar RCV001121978
- Conflicting interpretations
- Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dominant distal ren
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.53
- CADD 22.80
- PolyPhen-2 0.24
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dom)
- EBI: Pathogenic (in SPH4)
- UniProt: Pathogenic (in SPH4)
- Most common in the East Asian population (allele frequency 0.0021)
- Structural context available
- Cited in: Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. (PMID 10745622)
- Cited in: Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near-normal band 3… (PMID 9734643)