F112L (p.Phe112Leu) variant of BBS2 (BBSome complex member BBS2)
F112L (p.Phe112Leu) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
F112L (p.Phe112Leu) variant details
- p.Phe112Leu
- rs772864503
- ClinGen CA8066080
- ClinVar RCV000670631
- ClinVar RCV002507171
- Uncertain significance
- Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.96
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)