p.Pro21 Arg22del variant of BBS4 (BBSome complex member BBS4)
p.Pro21 Arg22del in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro21 Arg22del variant details
- gnomAD 15-72695212-ACCCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 12.50
- Population evidence available
- Structural context available
- Literature evidence available