N44S (p.Asn44Ser) variant of IFNAR1 (Interferon alpha/beta receptor 1)
N44S (p.Asn44Ser) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- rs139293982
- ClinGen CA10006396
- ClinVar RCV002016058
- 1000Genomes rs139293982
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -1.07
- CADD 0.26
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available