V75G (p.Val75Gly) variant of BBS2 (BBSome complex member BBS2)
V75G (p.Val75Gly) 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 BBS2-related ciliopathy; Retinitis pigmentosa 74; Bardet-Biedl syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V75G (p.Val75Gly) variant details
- p.Val75Gly
- rs121908174
- ClinGen CA253233
- ClinVar RCV000004831
- ClinVar RCV001002877
- Pathogenic/Likely pathogenic
- BBS2-related ciliopathy; Retinitis pigmentosa 74; Bardet-Biedl syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.90
- CADD 26.90
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (BBS2-related ciliopathy; Retinitis pigmentosa 74; Bardet-Biedl s)
- EBI: Pathogenic (in BBS2)
- UniProt: Pathogenic (in BBS2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). (PMID 11285252)
- Cited in: Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. (PMID 8298649)