A11V (p.Ala11Val) variant of BBS1 (BBSome complex member BBS1)
A11V (p.Ala11Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs150122944
- ClinGen CA6123188
- ClinVar RCV001876681
- 1000Genomes rs150122944
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.19
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.015)
- 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)