S70I (p.Ser70Ile) variant of BBS2 (BBSome complex member BBS2)
S70I (p.Ser70Ile) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S70I (p.Ser70Ile) variant details
- p.Ser70Ile
- 1000Genomes rs4784677
- ESP rs4784677
- ExAC rs4784677
- TOPMed rs4784677
- Pathogenic
- Missense
- EBI: Pathogenic (in dbSNP:rs4784677)
- UniProt: Pathogenic (in dbSNP:rs4784677)
- Structural context available