A17V (p.Ala17Val) variant of IFNAR1 (Interferon alpha/beta receptor 1)
A17V (p.Ala17Val) 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.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs143947592
- ClinGen CA10006359
- ClinVar RCV002862365
- ClinVar RCV004064980
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.21
- MetaLR 0.31
- MetaSVM -0.82
- CADD 14.20
- PolyPhen-2 0.41
- SIFT 0.17
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available