I56L (p.Ile56Leu) variant of SLC26A2 (Sulfate transporter)
I56L (p.Ile56Leu) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I56L (p.Ile56Leu) variant details
- p.Ile56Leu
- ExAC rs767810188
- TOPMed rs767810188
- gnomAD rs767810188
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available