S16A (p.Ser16Ala) variant of SLC26A2 (Sulfate transporter)
S16A (p.Ser16Ala) 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.
S16A (p.Ser16Ala) variant details
- p.Ser16Ala
- gnomAD 5-149977698-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 13.80
- PolyPhen-2 0.09
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available