R101* (p.Arg101Ter) variant of ARNT (P27540)
R101* (p.Arg101Ter) in ARNT (P27540) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
R101* (p.Arg101Ter) variant details
- p.Arg101Ter
- cosmic curated COSV62230
- ExAC rs751549820
- gnomAD rs751549820
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)