G38D (p.Gly38Asp) variant of BBS2 (BBSome complex member BBS2)
G38D (p.Gly38Asp) 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 Inborn genetic diseases; Bardet-Biedl syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G38D (p.Gly38Asp) variant details
- p.Gly38Asp
- rs748872389
- ClinGen CA8066138
- ClinVar RCV002012208
- ClinVar RCV002563529
- Uncertain significance
- Inborn genetic diseases; Bardet-Biedl syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.33
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases; Bardet-Biedl syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)