Q75P (p.Gln75Pro) variant of SLC26A2 (Sulfate transporter)
Q75P (p.Gln75Pro) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q75P (p.Gln75Pro) variant details
- p.Gln75Pro
- gnomAD 5-149977876-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 16.40
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available