R58G (p.Arg58Gly) variant of SLC26A2 (Sulfate transporter)
R58G (p.Arg58Gly) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R58G (p.Arg58Gly) variant details
- p.Arg58Gly
- ESP rs369318758
- ExAC rs369318758
- TOPMed rs369318758
- gnomAD rs369318758
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 5.07
- PolyPhen-2 0.17
- SIFT 0.27
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available