S12R (p.Ser12Arg) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S12R (p.Ser12Arg) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- gnomAD 21-33241895-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 15.40
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available