D30E (p.Asp30Glu) variant of IFNAR2 (Interferon alpha/beta receptor 2)
D30E (p.Asp30Glu) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- rs765337440
- ClinGen CA10005534
- ClinVar RCV001942364
- ExAC rs765337440
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.069
- REVEL 0.06
- CADD 1.24
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available