T79N (p.Thr79Asn) variant of BBS2 (BBSome complex member BBS2)
T79N (p.Thr79Asn) in BBS2 (BBSome complex member BBS2) is a missense change. The record also includes structural context.
T79N (p.Thr79Asn) variant details
- p.Thr79Asn
- ExAC rs780482248
- Missense
- Structural context available