A20S (p.Ala20Ser) variant of IFNGR2 (Interferon gamma receptor 2)
A20S (p.Ala20Ser) in IFNGR2 (Interferon gamma receptor 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- TOPMed rs1176465152
- gnomAD rs1176465152
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.05
- CADD 13.50
- PolyPhen-2 0.14
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available