Y34C (p.Tyr34Cys) variant of IFNAR2 (Interferon alpha/beta receptor 2)
Y34C (p.Tyr34Cys) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
Y34C (p.Tyr34Cys) variant details
- p.Tyr34Cys
- NCI-TCGA TCGA novel
- TOPMed rs1987278249
- gnomAD rs1987278249
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0975
- REVEL 0.09
- CADD 5.63
- PolyPhen-2 0.69
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available