C78W (p.Cys78Trp) variant of SLC26A2 (Sulfate transporter)
C78W (p.Cys78Trp) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
C78W (p.Cys78Trp) variant details
- p.Cys78Trp
- ExAC rs756565445
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.77
- ESM-1b 0.33
- AlphaMissense 0.23
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available