S52N (p.Ser52Asn) variant of IFNAR1 (Interferon alpha/beta receptor 1)
S52N (p.Ser52Asn) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S52N (p.Ser52Asn) variant details
- p.Ser52Asn
- 1000Genomes rs1318994012
- gnomAD rs1318994012
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.17
- MetaLR 0.29
- MetaSVM -0.93
- CADD 6.43
- PolyPhen-2 0.35
- SIFT 0.40
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available