A14V (p.Ala14Val) variant of BBS1 (BBSome complex member BBS1)
A14V (p.Ala14Val) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs774110999
- ClinGen CA381453348
- ClinVar RCV003859222
- ExAC rs774110999
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.08
- MetaLR 0.74
- MetaSVM -0.05
- PolyPhen-2 0.00
- SIFT 0.38
- MutPred 0.30
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Pathogenic
- UniProt: 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)