S38C (p.Ser38Cys) variant of ACVRL1 (Activin receptor type-1-like)
S38C (p.Ser38Cys) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes published literature and structural context.
S38C (p.Ser38Cys) variant details
- p.Ser38Cys
- rs2540158317
- ClinGen CA384897561
- ClinVar RCV002320469
- UniProt VAR 070310
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. (PMID 20414677)