S2F (p.Ser2Phe) variant of SLC26A2 (Sulfate transporter)
S2F (p.Ser2Phe) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- gnomAD rs1238936538
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available