R124* (p.Arg124Ter) variant of ARNT (P27540)
R124* (p.Arg124Ter) in ARNT (P27540) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
R124* (p.Arg124Ter) variant details
- p.Arg124Ter
- Ensembl rs2101950711
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)