P13L (p.Pro13Leu) variant of SLC26A2 (Sulfate transporter)
P13L (p.Pro13Leu) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- ExAC rs766531442
- gnomAD rs766531442
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 3.50
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available