V510F (p.Val510Phe) variant of BBS2 (BBSome complex member BBS2)
V510F (p.Val510Phe) in BBS2 (BBSome complex member BBS2) 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 0.46 / 1. The record also includes published literature and structural context.
V510F (p.Val510Phe) variant details
- p.Val510Phe
- rs766098919
- ClinGen CA395977227
- ClinVar RCV003229562
- Likely pathogenic
- Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.08
- MetaLR 0.47
- MetaSVM -0.39
- SIFT 0.42
- MutPred 0.32
- 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)