S5R (p.Ser5Arg) variant of SLC26A2 (Sulfate transporter)
S5R (p.Ser5Arg) in SLC26A2 (Sulfate transporter) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- rs1459144096
- gnomAD 5-149977662-GAAAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 23.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available