S5G (p.Ser5Gly) variant of SLC26A2 (Sulfate transporter)
S5G (p.Ser5Gly) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- gnomAD 5-149977665-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 10.60
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available