A20T (p.Ala20Thr) variant of BBS2 (BBSome complex member BBS2)
A20T (p.Ala20Thr) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- rs886052150
- ClinGen CA10638051
- ClinVar RCV000292388
- gnomAD rs886052150
- Uncertain significance
- Bardet-Biedl syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.14
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 2)
- 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)