G25V (p.Gly25Val) variant of IFNGR1 (Interferon gamma receptor 1)
G25V (p.Gly25Val) 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 0.27 / 1. The record also includes population frequency data and structural context.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- rs1405796456
- ClinGen CA365776401
- ClinVar RCV003763668
- gnomAD rs1405796456
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.25
- CADD 22.80
- PolyPhen-2 0.70
- SIFT 0.03
- 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