V19V (p.Val19Val) variant of IFNAR2 (Interferon alpha/beta receptor 2)
V19V (p.Val19Val) in IFNAR2 (Interferon alpha/beta receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V19V (p.Val19Val) variant details
- p.Val19Val
- gnomAD 21-33243674-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 12.10
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available