M909T (p.Met909Thr) variant of SLC4A1 (Band 3 anion transport protein)
M909T (p.Met909Thr) 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 Southeast Asian ovalocytosis; Cryohydrocytosis; Autosomal dominant distal renal. The record also includes variant effect predictions, published literature, and structural context.
M909T (p.Met909Thr) variant details
- p.Met909Thr
- rs2047328405
- ClinGen CA399778854
- ClinVar RCV001247448
- ClinVar RCV002499429
- Pathogenic/Likely pathogenic
- Southeast Asian ovalocytosis; Cryohydrocytosis; Autosomal dominant distal renal
- Missense
- MutPred 0.41
- ClinVar: Pathogenic/Likely pathogenic (Southeast Asian ovalocytosis; Cryohydrocytosis; Autosomal domina)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)