I56T (p.Ile56Thr) variant of SLC26A2 (Sulfate transporter)
I56T (p.Ile56Thr) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I56T (p.Ile56Thr) variant details
- p.Ile56Thr
- TOPMed rs1433995701
- gnomAD rs1433995701
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available