F42I (p.Phe42Ile) variant of SLC26A2 (Sulfate transporter)
F42I (p.Phe42Ile) 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, published literature, and structural context.
F42I (p.Phe42Ile) variant details
- p.Phe42Ile
- gnomAD 5-149977776-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 12.70
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available