E30G (p.Glu30Gly) variant of SLC26A2 (Sulfate transporter)
E30G (p.Glu30Gly) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- gnomAD 5-149977741-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available