R49D (p.Arg49Asp) variant of SLC26A2 (Sulfate transporter)
R49D (p.Arg49Asp) in SLC26A2 (Sulfate transporter) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R49D (p.Arg49Asp) variant details
- p.Arg49Asp
- rs1265764649
- gnomAD 5-149977796-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 19.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available