T48I (p.Thr48Ile) variant of SLC4A1 (Band 3 anion transport protein)
T48I (p.Thr48Ile) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- gnomAD rs2047445262
- Uncertain significance
- Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.05
- CADD 9.88
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYSTEM; BLOO)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available