I367N (p.Ile367Asn) variant of BBS1 (BBSome complex member BBS1)
I367N (p.Ile367Asn) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
I367N (p.Ile367Asn) variant details
- p.Ile367Asn
- rs1565286202
- ClinGen CA381462776
- ClinVar RCV000761258
- Ensembl rs1565286202
- Likely pathogenic
- Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.73
- MetaLR 0.36
- MetaSVM -0.28
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.75
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome 1)
- 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)