E68K (p.Glu68Lys) variant of SLC26A2 (Sulfate transporter)
E68K (p.Glu68Lys) 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 and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- ExAC rs751114545
- gnomAD rs751114545
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 9.53
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available