S53H (p.Ser53His) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S53H (p.Ser53His) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S53H (p.Ser53His) variant details
- p.Ser53His
- rs1334998917
- gnomAD 21-33245009-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 23.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available