H52Y (p.His52Tyr) variant of SLC26A2 (Sulfate transporter)
H52Y (p.His52Tyr) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H52Y (p.His52Tyr) variant details
- p.His52Tyr
- ExAC rs771193050
- gnomAD rs771193050
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 1.34
- PolyPhen-2 0.03
- SIFT 0.38
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)
- Structural context available