G701D (p.Gly701Asp) variant of SLC4A1 (Band 3 anion transport protein)
G701D (p.Gly701Asp) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G701D (p.Gly701Asp) variant details
- p.Gly701Asp
- rs121912748
- ClinGen CA127391
- cosmic curated COSV52258
- ClinVar RCV000019344
- Pathogenic/Likely pathogenic
- Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dominant distal ren
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.92
- MetaLR 0.88
- MetaSVM 1.03
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dom)
- EBI: Pathogenic (in DRTA4)
- UniProt: Pathogenic (in DRTA4)
- Most common in the 1KG:CDX population (allele frequency 0.011)
- Structural context available
- Cited in: Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up… (PMID 10926824)
- Cited in: Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene. (PMID 12087557)