M18L (p.Met18Leu) variant of BBS2 (BBSome complex member BBS2)
M18L (p.Met18Leu) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 2. The record also includes structural context.
M18L (p.Met18Leu) variant details
- p.Met18Leu
- TOPMed rs1964869222
- Uncertain significance
- Bardet-Biedl syndrome 2
- Missense
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2)
- UniProt: Uncertain significance
- Structural context available