S62* (p.Ser62Ter) variant of IFNAR1 (Interferon alpha/beta receptor 1)
S62* (p.Ser62Ter) in IFNAR1 (Interferon alpha/beta receptor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
S62* (p.Ser62Ter) variant details
- p.Ser62Ter
- 1000Genomes rs542762423
- ExAC rs542762423
- gnomAD rs542762423
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 36.00
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available