L9H (p.Leu9His) variant of IFNGR1 (Interferon gamma receptor 1)
L9H (p.Leu9His) 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 0.42 / 1. The record also includes population frequency data and structural context.
L9H (p.Leu9His) variant details
- p.Leu9His
- rs201275515
- ClinGen CA4019109
- ClinVar RCV002241308
- ExAC rs201275515
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.43
- CADD 22.90
- PolyPhen-2 0.95
- SIFT 0.00
- 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 0.0001)
- Structural context available