L125P (p.Leu125Pro) variant of BBS2 (BBSome complex member BBS2)
L125P (p.Leu125Pro) 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 Bardet-Biedl syndrome 2; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L125P (p.Leu125Pro) variant details
- p.Leu125Pro
- rs2144181949
- ClinGen CA395984501
- NCI-TCGA Cosmic COSV5532
- cosmic curated COSV55325
- Uncertain significance
- Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.88
- CADD 25.10
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2; Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance (in BBS2)
- UniProt: Uncertain significance (in BBS2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)