S5N (p.Ser5Asn) variant of SLC26A2 (Sulfate transporter)
S5N (p.Ser5Asn) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- ExAC rs779722346
- gnomAD rs779722346
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 7.19
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available