D64N (p.Asp64Asn) variant of IFNAR1 (Interferon alpha/beta receptor 1)
D64N (p.Asp64Asn) 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 0.37 / 1. The record also includes population frequency data and structural context.
D64N (p.Asp64Asn) variant details
- p.Asp64Asn
- rs142438988
- ClinGen CA10006408
- ClinVar RCV001915001
- ClinVar RCV005584945
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.25
- MetaLR 0.46
- MetaSVM -0.76
- CADD 23.20
- PolyPhen-2 0.92
- SIFT 0.41
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available