S77* (p.Ser77Ter) variant of ARNT (P27540)
S77* (p.Ser77Ter) in ARNT (P27540) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
S77* (p.Ser77Ter) variant details
- p.Ser77Ter
- ExAC rs779105288
- TOPMed rs779105288
- gnomAD rs779105288
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 42.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available