E34N (p.Glu34Asn) variant of SLC26A2 (Sulfate transporter)
E34N (p.Glu34Asn) in SLC26A2 (Sulfate transporter) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E34N (p.Glu34Asn) variant details
- p.Glu34Asn
- rs2113695568
- gnomAD 5-149977749-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 17.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available