T837M (p.Thr837Met) variant of SLC4A1 (Band 3 anion transport protein)
T837M (p.Thr837Met) 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 Renal tubulopathies; not provided. 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.
T837M (p.Thr837Met) variant details
- p.Thr837Met
- rs2047337144
- ClinGen CA399780137
- cosmic curated COSV10457
- ClinVar RCV001507890
- Pathogenic/Likely pathogenic
- Renal tubulopathies; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.91
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Renal tubulopathies; not provided)
- EBI: Pathogenic (in SPH4)
- UniProt: Pathogenic (in SPH4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)