P66S (p.Pro66Ser) variant of BBS1 (BBSome complex member BBS1)
P66S (p.Pro66Ser) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
P66S (p.Pro66Ser) variant details
- p.Pro66Ser
- Ensembl rs1565281462
- Missense
- Structural context available