P3R (p.Pro3Arg) variant of IFNGR2 (Interferon gamma receptor 2)
P3R (p.Pro3Arg) 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 0.18 / 1. The record also includes population frequency data and structural context.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- rs773084508
- ClinGen CA10006824
- ClinVar RCV001991719
- ExAC rs773084508
- Uncertain significance
- Immunodeficiency 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -1.00
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Immunodeficiency 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available