Y24* (p.Tyr24Ter) variant of BBS2 (BBSome complex member BBS2)
Y24* (p.Tyr24Ter) in BBS2 (BBSome complex member BBS2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y24* (p.Tyr24Ter) variant details
- p.Tyr24Ter
- rs121908175
- ClinGen CA116926
- ClinVar RCV000004832
- ClinVar RCV000412476
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (PMID 11567139)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)