P183R (p.Pro183Arg) variant of TLR9 (Toll-like receptor 9)
P183R (p.Pro183Arg) in TLR9 (Toll-like receptor 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Esophageal atresia/tracheoesophageal fistula. The record also includes variant effect predictions and structural context.
P183R (p.Pro183Arg) variant details
- p.Pro183Arg
- rs780099835
- ClinGen CA353101062
- ClinVar RCV001172304
- ExAC rs780099835
- Likely pathogenic
- Esophageal atresia/tracheoesophageal fistula
- Missense
- MutPred 0.57
- ClinVar: Likely pathogenic (Esophageal atresia/tracheoesophageal fistula)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available