S109L (p.Ser109Leu) variant of BBS2 (BBSome complex member BBS2)
S109L (p.Ser109Leu) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Retinal dystrophy; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S109L (p.Ser109Leu) variant details
- p.Ser109Leu
- rs181736797
- ClinGen CA8066083
- cosmic curated COSV55328
- ClinVar RCV002954203
- Uncertain significance
- Inborn genetic diseases; Retinal dystrophy; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.49
- CADD 24.00
- PolyPhen-2 0.39
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; Retinal dystrophy; Bardet-Biedl syndrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)