A51V (p.Ala51Val) variant of BMPR1A (P36894)
A51V (p.Ala51Val) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Juvenile polyposis syndrome. The record also includes structural context.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- Ensembl rs2133395466
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- ClinVar: Uncertain significance (Juvenile polyposis syndrome)
- UniProt: Uncertain significance
- Structural context available