R22R (p.Arg22Arg) variant of BBS4 (BBSome complex member BBS4)
R22R (p.Arg22Arg) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R22R (p.Arg22Arg) variant details
- p.Arg22Arg
- gnomAD 15-72695216-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.208
- CADD 5.95
- Population evidence available
- Structural context available
- Literature evidence available