I21V (p.Ile21Val) variant of BBS2 (BBSome complex member BBS2)
I21V (p.Ile21Val) 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; Bardet-Biedl syndrome 2; Retinitis pigmentosa 74. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- rs1319616745
- ClinGen CA395988132
- ClinVar RCV002018526
- ClinVar RCV002507806
- Uncertain significance
- Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
- Missense
- Variant Prioritization Score for Impact Estimate 0.0733
- REVEL 0.05
- CADD 4.31
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; Retinitis pigmen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)