S731P (p.Ser731Pro) variant of SLC4A1 (Band 3 anion transport protein)
S731P (p.Ser731Pro) 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 Cryohydrocytosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
S731P (p.Ser731Pro) variant details
- p.Ser731Pro
- rs863225461
- ClinGen CA215058
- ClinVar RCV000202410
- UniProt VAR 039295
- Pathogenic
- Cryohydrocytosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- MutPred 0.97
- ClinVar: Pathogenic (Cryohydrocytosis)
- EBI: Pathogenic (in CHC)
- UniProt: Pathogenic (in CHC)
- Structural context available
- Cited in: Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis. (PMID 10554820)
- Cited in: Two further British families with the 'cryohydrocytosis' form of hereditary stomatocytosis. (PMID 11442486)