K76Q (p.Lys76Gln) variant of SLC26A2 (Sulfate transporter)
K76Q (p.Lys76Gln) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K76Q (p.Lys76Gln) variant details
- p.Lys76Gln
- gnomAD 5-149977878-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available