V55M (p.Val55Met) variant of BBS1 (BBSome complex member BBS1)
V55M (p.Val55Met) 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 1; Retinal dystrophy; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V55M (p.Val55Met) variant details
- p.Val55Met
- rs181765153
- ClinGen CA6123281
- ClinVar RCV001277998
- ClinVar RCV001367515
- Uncertain significance
- Bardet-Biedl syndrome 1; Retinal dystrophy; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.78
- CADD 26.20
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 1; Retinal dystrophy; Bardet-Biedl syndrom)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.0098)
- 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)