P31S (p.Pro31Ser) variant of IFNGR2 (Interferon gamma receptor 2)
P31S (p.Pro31Ser) 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 0.46 / 1. The record also includes population frequency data and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs750951592
- ClinGen CA10006859
- ClinVar RCV002003285
- ExAC rs750951592
- Uncertain significance
- Immunodeficiency 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.39
- MetaLR 0.65
- MetaSVM 0.14
- CADD 22.00
- PolyPhen-2 0.52
- SIFT 0.08
- ClinVar: Uncertain significance (Immunodeficiency 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available