E3A (p.Glu3Ala) variant of BBS4 (BBSome complex member BBS4)
E3A (p.Glu3Ala) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Bardet-Biedl syndrome. The record also includes variant effect predictions, published literature, and structural context.
E3A (p.Glu3Ala) variant details
- p.Glu3Ala
- rs113994183
- ClinGen CA342437
- ClinVar RCV000020946
- Ensembl rs113994183
- Benign
- Bardet-Biedl syndrome
- Missense
- MutPred 0.24
- ClinVar: Benign (Bardet-Biedl syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)