S12A (p.Ser12Ala) variant of SLC26A2 (Sulfate transporter)
S12A (p.Ser12Ala) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S12A (p.Ser12Ala) variant details
- p.Ser12Ala
- gnomAD 5-149977686-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 5.80
- PolyPhen-2 0.06
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available