D38T (p.Asp38Thr) variant of SLC26A2 (Sulfate transporter)
D38T (p.Asp38Thr) in SLC26A2 (Sulfate transporter) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D38T (p.Asp38Thr) variant details
- p.Asp38Thr
- rs1395122785
- gnomAD 5-149977762-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 23.50
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available