N354K (p.Asn354Lys) variant of BBS2 (BBSome complex member BBS2)
N354K (p.Asn354Lys) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N354K (p.Asn354Lys) variant details
- p.Asn354Lys
- rs1567576202
- Ensembl rs1567576202
- ClinGen CA395980433
- ClinVar RCV000782277
- Pathogenic/Likely pathogenic
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.55
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Bardet-Biedl syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)