A8S (p.Ala8Ser) variant of IFNAR1 (Interferon alpha/beta receptor 1)
A8S (p.Ala8Ser) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- ExAC rs763417814
- gnomAD rs763417814
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.22
- MetaLR 0.39
- MetaSVM -0.66
- CADD 22.30
- PolyPhen-2 0.79
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available