E43A (p.Glu43Ala) variant of SLC26A2 (Sulfate transporter)
E43A (p.Glu43Ala) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E43A (p.Glu43Ala) variant details
- p.Glu43Ala
- gnomAD 5-149977780-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available