E9* (p.Glu9Ter) variant of SLC22A1 (O15245)
E9* (p.Glu9Ter) in SLC22A1 (O15245) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E9* (p.Glu9Ter) variant details
- p.Glu9Ter
- gnomAD 6-160121960-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 35.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available