G7D (p.Gly7Asp) variant of IFNAR1 (Interferon alpha/beta receptor 1)
G7D (p.Gly7Asp) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- ESP rs371310065
- ExAC rs371310065
- TOPMed rs371310065
- gnomAD rs371310065
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.20
- MetaLR 0.21
- MetaSVM -0.80
- CADD 16.20
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available