S62L (p.Ser62Leu) variant of SLC26A2 (Sulfate transporter)
S62L (p.Ser62Leu) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S62L (p.Ser62Leu) variant details
- p.Ser62Leu
- gnomAD 5-149977837-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 9.44
- PolyPhen-2 0.02
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available