E7K (p.Glu7Lys) variant of SLC26A2 (Sulfate transporter)
E7K (p.Glu7Lys) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- TOPMed rs1390775746
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available