T64R (p.Thr64Arg) variant of SLC26A2 (Sulfate transporter)
T64R (p.Thr64Arg) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T64R (p.Thr64Arg) variant details
- p.Thr64Arg
- TOPMed rs1755019762
- gnomAD rs1755019762
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 5.37
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available