R28G (p.Arg28Gly) variant of TLR7 (Toll-like receptor 7)
R28G (p.Arg28Gly) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SLEB17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
R28G (p.Arg28Gly) variant details
- p.Arg28Gly
- rs2147245261
- ClinGen CA412403934
- ClinVar RCV002248405
- UniProt VAR 087534
- Pathogenic
- in SLEB17
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -1.02
- PolyPhen-2 0.03
- SIFT 0.08
- MutPred 0.53
- EBI: Pathogenic (in SLEB17)
- UniProt: Pathogenic (in SLEB17)
- Structural context available
- Cited in: TLR7 gain-of-function genetic variation causes human lupus. (PMID 35477763)