H47Y (p.His47Tyr) variant of ACVR1 (Activin receptor type-1)
H47Y (p.His47Tyr) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
H47Y (p.His47Tyr) variant details
- p.His47Tyr
- TOPMed rs889434177
- gnomAD rs889434177
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance (in dbSNP:rs34056189)
- UniProt: Uncertain significance (in dbSNP:rs34056189)
- Structural context available