Q20* (p.Gln20Ter) variant of SLC22A1 (O15245)
Q20* (p.Gln20Ter) in SLC22A1 (O15245) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q20* (p.Gln20Ter) variant details
- p.Gln20Ter
- TOPMed rs931277008
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 34.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available