D53N (p.Asp53Asn) variant of IFNAR1 (Interferon alpha/beta receptor 1)
D53N (p.Asp53Asn) 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.
D53N (p.Asp53Asn) variant details
- p.Asp53Asn
- rs377298705
- ClinGen CA10006400
- ClinVar RCV001919178
- 1000Genomes rs377298705
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.11
- MetaLR 0.13
- MetaSVM -1.00
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:LAHU population (allele frequency 0.1)
- Structural context available