N141S (p.Asn141Ser) variant of BBS2 (BBSome complex member BBS2)
N141S (p.Asn141Ser) 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 Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
N141S (p.Asn141Ser) variant details
- p.Asn141Ser
- rs144680278
- ClinGen CA8066054
- ClinVar RCV001239677
- ClinVar RCV001559167
- Uncertain significance
- Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.65
- CADD 21.70
- PolyPhen-2 0.21
- SIFT 0.05
- ClinVar: Uncertain significance (Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)