V70L (p.Val70Leu) variant of SLC26A2 (Sulfate transporter)
V70L (p.Val70Leu) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V70L (p.Val70Leu) variant details
- p.Val70Leu
- TOPMed rs1217971274
- gnomAD rs1217971274
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 1.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available