M88R (p.Met88Arg) variant of SLC26A2 (Sulfate transporter)
M88R (p.Met88Arg) in SLC26A2 (Sulfate transporter) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
M88R (p.Met88Arg) variant details
- p.Met88Arg
- gnomAD 5-149977914-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available