S12P (p.Ser12Pro) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S12P (p.Ser12Pro) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- gnomAD 21-33241956-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.10
- CADD 4.60
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available