P26Q (p.Pro26Gln) variant of IFNGR1 (Interferon gamma receptor 1)
P26Q (p.Pro26Gln) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Disseminated atypical mycobacterial infection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P26Q (p.Pro26Gln) variant details
- p.Pro26Gln
- rs768232887
- ClinGen CA4019098
- ClinVar RCV002570316
- ExAC rs768232887
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.33
- CADD 18.80
- PolyPhen-2 0.94
- SIFT 0.19
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available