K39N (p.Lys39Asn) variant of BBS2 (BBSome complex member BBS2)
K39N (p.Lys39Asn) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Bardet-Biedl syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
K39N (p.Lys39Asn) variant details
- p.Lys39Asn
- rs755877218
- ClinGen CA395987917
- ClinVar RCV001175187
- ExAC rs755877218
- Likely benign
- Bardet-Biedl syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- AlphaMissense 0.70
- MetaLR 0.77
- MetaSVM 0.59
- SIFT 0.00
- MutPred 0.33
- ClinVar: Likely benign (Bardet-Biedl syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)