D45D (p.Asp45Asp) variant of BBS1 (BBSome complex member BBS1)
D45D (p.Asp45Asp) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D45D (p.Asp45Asp) variant details
- p.Asp45Asp
- gnomAD 11-66511215-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available