T48S (p.Thr48Ser) variant of SLC4A1 (Band 3 anion transport protein)
T48S (p.Thr48Ser) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T48S (p.Thr48Ser) variant details
- p.Thr48Ser
- gnomAD rs2047445262
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.08
- CADD 6.19
- PolyPhen-2 0.00
- SIFT 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available