A14S (p.Ala14Ser) variant of BBS1 (BBSome complex member BBS1)
A14S (p.Ala14Ser) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- Ensembl rs1855919917
- Missense
- Structural context available