S375R (p.Ser375Arg) variant of BBS1 (BBSome complex member BBS1)
S375R (p.Ser375Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S375R (p.Ser375Arg) variant details
- p.Ser375Arg
- rs1565287512
- ClinGen CA381422148
- ClinVar RCV000735916
- Ensembl rs1565287512
- Likely pathogenic
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.55
- CADD 22.40
- PolyPhen-2 0.40
- SIFT 0.02
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)