C34W (p.Cys34Trp) variant of ACVRL1 (Activin receptor type-1-like)
C34W (p.Cys34Trp) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HHT2. The record also includes structural context.
C34W (p.Cys34Trp) variant details
- p.Cys34Trp
- TOPMed rs1226848374
- gnomAD rs1226848374
- Pathogenic
- in HHT2
- Missense
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available