C48G (p.Cys48Gly) variant of SLC26A2 (Sulfate transporter)
C48G (p.Cys48Gly) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C48G (p.Cys48Gly) variant details
- p.Cys48Gly
- gnomAD 5-149977794-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 2.12
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available