N107S (p.Asn107Ser) variant of BBS2 (BBSome complex member BBS2)
N107S (p.Asn107Ser) 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; Retinitis pigmentosa 74; Bardet-Biedl syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N107S (p.Asn107Ser) variant details
- p.Asn107Ser
- rs1292834581
- ClinGen CA395985442
- ClinVar RCV001906834
- ClinVar RCV002484417
- Uncertain significance
- Bardet-Biedl syndrome; Retinitis pigmentosa 74; Bardet-Biedl syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.22
- CADD 22.80
- PolyPhen-2 0.12
- SIFT 0.05
- ClinVar: Uncertain significance (Bardet-Biedl syndrome; Retinitis pigmentosa 74; Bardet-Biedl syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- 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)