D58A (p.Asp58Ala) variant of BBS1 (BBSome complex member BBS1)
D58A (p.Asp58Ala) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
D58A (p.Asp58Ala) variant details
- p.Asp58Ala
- Ensembl rs1590756387
- Missense
- Structural context available