A447T (p.Ala447Thr) variant of BBS1 (BBSome complex member BBS1)
A447T (p.Ala447Thr) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A447T (p.Ala447Thr) variant details
- p.Ala447Thr
- rs200116631
- ClinGen CA6123700
- cosmic curated COSV59148
- ClinVar RCV000638357
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.35
- CADD 31.00
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Bardet-Biedl syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- 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)