K40Q (p.Lys40Gln) variant of SLC26A2 (Sulfate transporter)
K40Q (p.Lys40Gln) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K40Q (p.Lys40Gln) variant details
- p.Lys40Gln
- gnomAD 5-149977770-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 8.56
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available