G81D (p.Gly81Asp) variant of BBS2 (BBSome complex member BBS2)
G81D (p.Gly81Asp) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
G81D (p.Gly81Asp) variant details
- p.Gly81Asp
- gnomAD rs1178237354
- Missense
- Structural context available