E70Q (p.Glu70Gln) variant of SLC22A2 (O15244)
E70Q (p.Glu70Gln) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E70Q (p.Glu70Gln) variant details
- p.Glu70Gln
- gnomAD rs1408066869
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.15
- CADD 20.50
- PolyPhen-2 0.34
- SIFT 0.20
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available