N44I (p.Asn44Ile) variant of BBS2 (BBSome complex member BBS2)
N44I (p.Asn44Ile) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
N44I (p.Asn44Ile) variant details
- p.Asn44Ile
- ExAC rs764000508
- TOPMed rs764000508
- gnomAD rs764000508
- Missense
- Structural context available