D65V (p.Asp65Val) variant of BBS2 (BBSome complex member BBS2)
D65V (p.Asp65Val) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D65V (p.Asp65Val) variant details
- p.Asp65Val
- rs746643609
- ClinGen CA8066098
- ClinVar RCV001896380
- ClinVar RCV004584229
- Uncertain significance
- Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.71
- CADD 27.20
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2; Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)