S5F (p.Ser5Phe) variant of BBS1 (BBSome complex member BBS1)
S5F (p.Ser5Phe) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- rs755308059
- ClinGen CA6123181
- ClinVar RCV003087928
- ClinVar RCV003420331
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.34
- CADD 16.90
- PolyPhen-2 0.24
- SIFT 0.03
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)