G572D (p.Gly572Asp) variant of TLR8 (Toll-like receptor 8)
G572D (p.Gly572Asp) in TLR8 (Toll-like receptor 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency 98 with autoinflammation, X-linked; INFLTR8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
G572D (p.Gly572Asp) variant details
- p.Gly572Asp
- rs1385657144
- ClinGen CA412416478
- ClinVar RCV001526671
- ClinVar RCV002246410
- Pathogenic
- Immunodeficiency 98 with autoinflammation, X-linked; INFLTR8
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.92
- MetaLR 0.30
- MetaSVM -0.36
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.56
- ClinVar: Pathogenic (Immunodeficiency 98 with autoinflammation, X-linked; INFLTR8)
- EBI: Pathogenic (in IMD98)
- UniProt: Pathogenic (in IMD98)
- Structural context available
- Cited in: Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function. (PMID 33512449)
- Cited in: TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in… (PMID 34981838)