Q47R (p.Gln47Arg) variant of SLC26A2 (Sulfate transporter)
Q47R (p.Gln47Arg) in SLC26A2 (Sulfate transporter) is a missense 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.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- gnomAD 5-149977792-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 2.25
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available