H9Y (p.His9Tyr) variant of SLC26A2 (Sulfate transporter)
H9Y (p.His9Tyr) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H9Y (p.His9Tyr) variant details
- p.His9Tyr
- ESP rs151076648
- ExAC rs151076648
- TOPMed rs151076648
- gnomAD rs151076648
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 6.88
- PolyPhen-2 0.09
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available