E43V (p.Glu43Val) variant of SLC26A2 (Sulfate transporter)
E43V (p.Glu43Val) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E43V (p.Glu43Val) variant details
- p.Glu43Val
- gnomAD rs1250888818
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available