R5R (p.Arg5Arg) variant of BBS4 (BBSome complex member BBS4)
R5R (p.Arg5Arg) in BBS4 (BBSome complex member BBS4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- gnomAD 15-72686242-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available