D10D (p.Asp10Asp) variant of BBS1 (BBSome complex member BBS1)
D10D (p.Asp10Asp) in BBS1 (BBSome complex member BBS1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D10D (p.Asp10Asp) variant details
- p.Asp10Asp
- gnomAD 11-66510689-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 7.58
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available