Y20C (p.Tyr20Cys) variant of IFNAR2 (Interferon alpha/beta receptor 2)
Y20C (p.Tyr20Cys) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
Y20C (p.Tyr20Cys) variant details
- p.Tyr20Cys
- rs781731891
- ClinGen CA10005527
- ClinVar RCV002591341
- ExAC rs781731891
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0676
- REVEL 0.08
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available