R53S (p.Arg53Ser) variant of SLC26A2 (Sulfate transporter)
R53S (p.Arg53Ser) 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 0.24 / 1. The record also includes structural context.
R53S (p.Arg53Ser) variant details
- p.Arg53Ser
- ExAC rs766615254
- gnomAD rs766615254
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- ESM-1b 0.00
- AlphaMissense 0.36
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available