N20S (p.Asn20Ser) variant of BBS1 (BBSome complex member BBS1)
N20S (p.Asn20Ser) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N20S (p.Asn20Ser) variant details
- p.Asn20Ser
- rs879216710
- ClinGen CA224071420
- ClinVar RCV002756858
- ClinVar RCV006327514
- Conflicting interpretations
- Inborn genetic diseases; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.29
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Bardet-Biedl syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- 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)