G7S (p.Gly7Ser) variant of IFNAR1 (Interferon alpha/beta receptor 1)
G7S (p.Gly7Ser) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- gnomAD rs1189824203
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.27
- MetaLR 0.37
- MetaSVM -0.39
- CADD 21.50
- PolyPhen-2 0.78
- SIFT 0.36
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available