I42M (p.Ile42Met) variant of BBS2 (BBSome complex member BBS2)
I42M (p.Ile42Met) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Bardet-Biedl syndrome 2; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I42M (p.Ile42Met) variant details
- p.Ile42Met
- rs139945733
- ClinGen CA8066105
- ClinVar RCV000867744
- ClinVar RCV001121842
- Conflicting interpretations
- Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.67
- CADD 25.10
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Bardet-Biedl syndrome 2; Bardet-Biedl syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)