A7T (p.Ala7Thr) variant of BBS4 (BBSome complex member BBS4)
A7T (p.Ala7Thr) in BBS4 (BBSome complex member BBS4) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs2064831111
- ClinGen CA393075059
- ClinVar RCV002007742
- Ensembl rs2064831111
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -0.95
- CADD 7.38
- PolyPhen-2 0.01
- SIFT 0.74
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)