S32C (p.Ser32Cys) variant of IFNAR1 (Interferon alpha/beta receptor 1)
S32C (p.Ser32Cys) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S32C (p.Ser32Cys) variant details
- p.Ser32Cys
- gnomAD 21-33335542-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.26
- MetaLR 0.51
- MetaSVM -0.68
- CADD 17.00
- PolyPhen-2 0.95
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 6.1e-05)
- Structural context available
- Literature evidence available