Q79H (p.Gln79His) variant of SLC26A2 (Sulfate transporter)
Q79H (p.Gln79His) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q79H (p.Gln79His) variant details
- p.Gln79His
- gnomAD 5-149977889-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.80
- PolyPhen-2 0.31
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available