K46E (p.Lys46Glu) variant of BBS4 (BBSome complex member BBS4)
K46E (p.Lys46Glu) in BBS4 (BBSome complex member BBS4) is a missense change. The record also includes structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- Ensembl rs927016220
- Missense
- Structural context available