G139V (p.Gly139Val) variant of BBS2 (BBSome complex member BBS2)
G139V (p.Gly139Val) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bardet-Biedl syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G139V (p.Gly139Val) variant details
- p.Gly139Val
- rs121908181
- ClinGen CA253240
- ClinVar RCV000004846
- UniProt VAR 075728
- Pathogenic
- Bardet-Biedl syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.06
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic (Bardet-Biedl syndrome 2)
- EBI: Pathogenic (in BBS2)
- UniProt: Pathogenic (in BBS2)
- Structural context available
- Cited in: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. (PMID 16582908)
- Cited in: Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2… (PMID 16823392)