p.Ala42dup variant of BBS1 (BBSome complex member BBS1)
p.Ala42dup in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala42dup variant details
- gnomAD 11-66511088-A-AGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 21.20
- Population evidence available
- Structural context available
- Literature evidence available