I123L (p.Ile123Leu) variant of BBS2 (BBSome complex member BBS2)
I123L (p.Ile123Leu) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
I123L (p.Ile123Leu) variant details
- p.Ile123Leu
- 1000Genomes rs11373
- ESP rs11373
- ExAC rs11373
- TOPMed rs11373
- Benign
- Missense
- EBI: Benign (in dbSNP:rs11373)
- UniProt: Benign (in dbSNP:rs11373)
- Structural context available