A18V (p.Ala18Val) variant of IFNGR2 (Interferon gamma receptor 2)
A18V (p.Ala18Val) in IFNGR2 (Interferon gamma receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs773932279
- ClinGen CA10006831
- ClinVar RCV001070921
- ExAC rs773932279
- Uncertain significance
- Immunodeficiency 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.06
- MetaLR 0.15
- MetaSVM -0.92
- CADD 14.60
- PolyPhen-2 0.79
- SIFT 0.54
- ClinVar: Uncertain significance (Immunodeficiency 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available