P82A (p.Pro82Ala) variant of SLC26A2 (Sulfate transporter)
P82A (p.Pro82Ala) in SLC26A2 (Sulfate transporter) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P82A (p.Pro82Ala) variant details
- p.Pro82Ala
- rs1057517504
- gnomAD 5-149977886-C-CCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available