S53R (p.Ser53Arg) variant of BBS2 (BBSome complex member BBS2)
S53R (p.Ser53Arg) 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 Bardet-Biedl syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S53R (p.Ser53Arg) variant details
- p.Ser53Arg
- rs1250423040
- ClinGen CA395986254
- ClinVar RCV001058849
- ClinVar RCV001273916
- Uncertain significance
- Bardet-Biedl syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.13
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Bardet-Biedl syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)