D90G (p.Asp90Gly) variant of BBS2 (BBSome complex member BBS2)
D90G (p.Asp90Gly) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D90G (p.Asp90Gly) variant details
- p.Asp90Gly
- rs1228731722
- ClinGen CA395985677
- ClinVar RCV001213840
- ClinVar RCV005021511
- Likely pathogenic
- Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.93
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Retinitis pigmentosa 74; Bardet-Biedl syndrome 2; Bardet-Biedl s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)