S53del (p.Ser53del) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S53del (p.Ser53del) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S53del (p.Ser53del) variant details
- rs1468003457
- gnomAD 21-33245008-TATC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 13.70
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available