S5I (p.Ser5Ile) variant of SLC26A2 (Sulfate transporter)
S5I (p.Ser5Ile) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S5I (p.Ser5Ile) variant details
- p.Ser5Ile
- ExAC rs779722346
- gnomAD rs779722346
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.10
- PolyPhen-2 0.15
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available