V11F (p.Val11Phe) variant of SLC26A2 (Sulfate transporter)
V11F (p.Val11Phe) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V11F (p.Val11Phe) variant details
- p.Val11Phe
- ExAC rs770366919
- gnomAD rs770366919
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 11.60
- PolyPhen-2 0.04
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available