P30Q (p.Pro30Gln) variant of BBS1 (BBSome complex member BBS1)
P30Q (p.Pro30Gln) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
P30Q (p.Pro30Gln) variant details
- p.Pro30Gln
- Ensembl rs78913093
- Missense
- Structural context available