S16C (p.Ser16Cys) variant of BBS1 (BBSome complex member BBS1)
S16C (p.Ser16Cys) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome; Bardet-Biedl syndrome 1; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S16C (p.Ser16Cys) variant details
- p.Ser16Cys
- rs772917364
- ClinGen CA6123193
- ClinVar RCV000782273
- ClinVar RCV004817985
- Likely pathogenic
- Bardet-Biedl syndrome; Bardet-Biedl syndrome 1; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.61
- CADD 34.00
- PolyPhen-2 0.80
- SIFT 0.01
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome; Bardet-Biedl syndrome 1; Retinal dystroph)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)