L7P (p.Leu7Pro) variant of IFNGR1 (Interferon gamma receptor 1)
L7P (p.Leu7Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- rs2548247438
- ClinGen CA365776514
- ClinVar RCV003821318
- ClinVar RCV004767486
- Uncertain significance
- Disseminated atypical mycobacterial infection; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.56
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available