K72Q (p.Lys72Gln) variant of SLC26A2 (Sulfate transporter)
K72Q (p.Lys72Gln) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K72Q (p.Lys72Gln) variant details
- p.Lys72Gln
- gnomAD 5-149977866-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available