S5A (p.Ser5Ala) variant of BBS1 (BBSome complex member BBS1)
S5A (p.Ser5Ala) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
S5A (p.Ser5Ala) variant details
- p.Ser5Ala
- gnomAD rs1188623243
- Missense
- Structural context available