D42G (p.Asp42Gly) variant of IFNAR1 (Interferon alpha/beta receptor 1)
D42G (p.Asp42Gly) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D42G (p.Asp42Gly) variant details
- p.Asp42Gly
- TOPMed rs2083226005
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.73
- MetaLR 0.56
- MetaSVM 0.16
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available