D43G (p.Asp43Gly) variant of IFNAR1 (Interferon alpha/beta receptor 1)
D43G (p.Asp43Gly) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.58 / 1. The record also includes population frequency data and structural context.
D43G (p.Asp43Gly) variant details
- p.Asp43Gly
- rs143773564
- ClinGen CA320140533
- ClinVar RCV004096351
- ESP rs143773564
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.59
- MetaLR 0.46
- MetaSVM -0.19
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00029)
- Structural context available