S15A (p.Ser15Ala) variant of BBS4 (BBSome complex member BBS4)
S15A (p.Ser15Ala) in BBS4 (BBSome complex member BBS4) is a missense change. The record also includes structural context.
S15A (p.Ser15Ala) variant details
- p.Ser15Ala
- Ensembl rs1595906911
- Missense
- Structural context available