D39N (p.Asp39Asn) variant of IFNAR1 (Interferon alpha/beta receptor 1)
D39N (p.Asp39Asn) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; 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.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- rs148989381
- ClinGen CA10006393
- ClinVar RCV001303454
- ClinVar RCV003963202
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -0.90
- CADD 0.33
- PolyPhen-2 0.08
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available