R53* (p.Arg53Ter) variant of CHRNA4 (P43681)
R53* (p.Arg53Ter) in CHRNA4 (P43681) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
R53* (p.Arg53Ter) variant details
- p.Arg53Ter
- TOPMed rs2054226040
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 40.00
- Most common in the African/African-American population (allele frequency 3e-05)