E57G (p.Glu57Gly) variant of SLC22A1 (O15245)
E57G (p.Glu57Gly) in SLC22A1 (O15245) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E57G (p.Glu57Gly) variant details
- p.Glu57Gly
- gnomAD 6-160122099-T-TGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 25.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available