F5L (p.Phe5Leu) variant of IFNGR1 (Interferon gamma receptor 1)
F5L (p.Phe5Leu) 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 0.22 / 1. The record also includes population frequency data and structural context.
F5L (p.Phe5Leu) variant details
- p.Phe5Leu
- rs749066245
- ClinGen CA4019111
- ClinVar RCV003830986
- ExAC rs749066245
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.15
- AlphaMissense 0.21
- MetaLR 0.33
- MetaSVM -0.48
- CADD 5.86
- PolyPhen-2 0.99
- 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 5.9e-05)
- Structural context available