S16L (p.Ser16Leu) variant of SLC26A2 (Sulfate transporter)
S16L (p.Ser16Leu) 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 0.24 / 1. The record also includes population frequency data and structural context.
S16L (p.Ser16Leu) variant details
- p.Ser16Leu
- TOPMed rs386833505
- gnomAD rs386833505
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available