S22I (p.Ser22Ile) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S22I (p.Ser22Ile) in IFNAR2 (Interferon alpha/beta receptor 2) 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.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- rs143742626
- ClinGen CA10005528
- ClinVar RCV001946538
- ClinVar RCV004042978
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.36
- CADD 15.60
- PolyPhen-2 0.26
- SIFT 0.06
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available