A7V (p.Ala7Val) variant of BBS4 (BBSome complex member BBS4)
A7V (p.Ala7Val) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of BBS4-related disorder; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs113994186
- ClinGen CA342432
- ClinVar RCV000020942
- ClinVar RCV004748537
- Conflicting interpretations
- BBS4-related disorder; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.16
- MetaLR 0.14
- MetaSVM -1.01
- CADD 0.27
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (BBS4-related disorder; Bardet-Biedl syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)