S16G (p.Ser16Gly) variant of BBS1 (BBSome complex member BBS1)
S16G (p.Ser16Gly) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
S16G (p.Ser16Gly) variant details
- p.Ser16Gly
- ExAC rs772917364
- gnomAD rs772917364
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available