D29D (p.Asp29Asp) variant of BBS1 (BBSome complex member BBS1)
D29D (p.Asp29Asp) 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.
D29D (p.Asp29Asp) variant details
- p.Asp29Asp
- gnomAD 11-66511052-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 13.60
- Population evidence available
- Structural context available
- Literature evidence available