F494L (p.Phe494Leu) variant of TLR8 (Toll-like receptor 8)
F494L (p.Phe494Leu) 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 INFLTR8; Immunodeficiency 98 with autoinflammation, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
F494L (p.Phe494Leu) variant details
- p.Phe494Leu
- rs2147259120
- ClinGen CA412415935
- ClinVar RCV001526672
- ClinVar RCV002246411
- Pathogenic
- INFLTR8; Immunodeficiency 98 with autoinflammation, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- AlphaMissense 0.97
- MetaLR 0.16
- MetaSVM -0.79
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.51
- ClinVar: Pathogenic (INFLTR8; Immunodeficiency 98 with autoinflammation, X-linked)
- 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)