R44* (p.Arg44Ter) variant of ARNT (P27540)
R44* (p.Arg44Ter) in ARNT (P27540) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
R44* (p.Arg44Ter) variant details
- p.Arg44Ter
- cosmic curated COSV10968
- ExAC rs754299833
- gnomAD rs754299833
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)