N44H (p.Asn44His) variant of IFNAR1 (Interferon alpha/beta receptor 1)
N44H (p.Asn44His) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N44H (p.Asn44His) variant details
- p.Asn44His
- rs538755984
- ClinGen CA10006395
- ClinVar RCV001901707
- ClinVar RCV004042624
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.24
- MetaLR 0.42
- MetaSVM -0.58
- CADD 22.10
- PolyPhen-2 0.95
- SIFT 0.22
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available