Y106* (p.Tyr106Ter) variant of BBS2 (BBSome complex member BBS2)
Y106* (p.Tyr106Ter) in BBS2 (BBSome complex member BBS2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Y106* (p.Tyr106Ter) variant details
- p.Tyr106Ter
- gnomAD rs1964675433
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 35.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available