W130C (p.Trp130Cys) variant of IRAK1 (P51617)
W130C (p.Trp130Cys) in IRAK1 (P51617) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of IRAK1-related disorder. The record also includes structural context.
W130C (p.Trp130Cys) variant details
- p.Trp130Cys
- rs2521947003
- ClinGen CA415153591
- ClinVar RCV003966875
- Uncertain significance
- IRAK1-related disorder
- Missense
- ClinVar: Uncertain significance (IRAK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available