A26V (p.Ala26Val) variant of BBS1 (BBSome complex member BBS1)
A26V (p.Ala26Val) 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; Inborn genetic diseases; Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs866558676
- ClinGen CA224071421
- NCI-TCGA Cosmic COSV5915
- cosmic curated COSV59150
- Uncertain significance
- Bardet-Biedl syndrome; Inborn genetic diseases; Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.82
- CADD 24.90
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome; Inborn genetic diseases; Bardet-Biedl syn)
- 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)