Y28Y (p.Tyr28Tyr) variant of BBS1 (BBSome complex member BBS1)
Y28Y (p.Tyr28Tyr) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Y28Y (p.Tyr28Tyr) variant details
- p.Tyr28Tyr
- rs771560964
- gnomAD 11-66511049-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 12.10
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available