A22V (p.Ala22Val) variant of IFNGR2 (Interferon gamma receptor 2)
A22V (p.Ala22Val) 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 0.15 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs1555878402
- ClinGen CA410113975
- ClinVar RCV000542067
- Ensembl rs1555878402
- Uncertain significance
- Immunodeficiency 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.06
- MetaLR 0.14
- MetaSVM -1.03
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Immunodeficiency 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.8e-05)
- Structural context available