F507L (p.Phe507Leu) variant of TLR7 (Toll-like receptor 7)
F507L (p.Phe507Leu) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Systemic lupus erythematosus 17; Systemic lupus erythematosus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
F507L (p.Phe507Leu) variant details
- p.Phe507Leu
- rs2147245859
- ClinGen CA412407850
- ClinVar RCV002251771
- ClinVar RCV002259554
- Pathogenic
- Systemic lupus erythematosus 17; Systemic lupus erythematosus
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.90
- MetaLR 0.18
- MetaSVM -0.85
- PolyPhen-2 0.85
- SIFT 0.00
- MutPred 0.56
- ClinVar: Pathogenic (Systemic lupus erythematosus 17; Systemic lupus erythematosus)
- EBI: Pathogenic (in SLEB17)
- UniProt: Pathogenic (in SLEB17)
- Structural context available
- Cited in: TLR7 gain-of-function genetic variation causes human lupus. (PMID 35477763)