H90L (p.His90Leu) variant of IFNGR1 (Interferon gamma receptor 1)
H90L (p.His90Leu) 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 0.29 / 1. The record also includes structural context.
H90L (p.His90Leu) variant details
- p.His90Leu
- rs2114487139
- ClinGen CA365775812
- ClinVar RCV002042288
- Ensembl rs2114487139
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- AlphaMissense 0.14
- MetaLR 0.07
- MetaSVM -1.03
- PolyPhen-2 0.04
- SIFT 0.29
- EVE 0.11
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available