S4P (p.Ser4Pro) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S4P (p.Ser4Pro) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- gnomAD 21-33241930-TGA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 22.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available