E28D (p.Glu28Asp) variant of BBS4 (BBSome complex member BBS4)
E28D (p.Glu28Asp) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- NCI-TCGA Cosmic COSV9916
- ExAC rs772122336
- TOPMed rs772122336
- gnomAD rs772122336
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available