S22C (p.Ser22Cys) variant of IFNAR1 (Interferon alpha/beta receptor 1)
S22C (p.Ser22Cys) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S22C (p.Ser22Cys) variant details
- p.Ser22Cys
- ExAC rs745384435
- gnomAD rs745384435
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.20
- MetaLR 0.25
- MetaSVM -0.83
- CADD 21.90
- PolyPhen-2 0.38
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available