R5S (p.Arg5Ser) variant of BBS4 (BBSome complex member BBS4)
R5S (p.Arg5Ser) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- Ensembl rs1567389551
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.25
- MetaLR 0.12
- MetaSVM -1.03
- CADD 6.96
- PolyPhen-2 0.01
- SIFT 0.94
- Population evidence available
- Structural context available