G81C (p.Gly81Cys) variant of BBS2 (BBSome complex member BBS2)
G81C (p.Gly81Cys) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G81C (p.Gly81Cys) variant details
- p.Gly81Cys
- rs750506474
- ClinGen CA8066092
- ClinVar RCV000673306
- ClinVar RCV001075001
- Pathogenic/Likely pathogenic
- Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.92
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bardet-Biedl syndrome 2; Retinitis pigmentosa 74; Retinal dystro)
- EBI: Pathogenic (in BBS2)
- UniProt: Pathogenic (in BBS2)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (PMID 21344540)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)