A136E (p.Ala136Glu) variant of BBS2 (BBSome complex member BBS2)
A136E (p.Ala136Glu) 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 Retinal dystrophy; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A136E (p.Ala136Glu) variant details
- p.Ala136Glu
- rs373166163
- ClinGen CA8066056
- ClinVar RCV002596503
- ClinVar RCV003889122
- Uncertain significance
- Retinal dystrophy; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.80
- CADD 25.10
- PolyPhen-2 0.86
- SIFT 0.01
- ClinVar: Uncertain significance (Retinal dystrophy; Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance (in BBS2)
- UniProt: Uncertain significance (in BBS2)
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)