R5I (p.Arg5Ile) variant of BBS4 (BBSome complex member BBS4)
R5I (p.Arg5Ile) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R5I (p.Arg5Ile) variant details
- p.Arg5Ile
- gnomAD 15-72686241-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.30
- MetaLR 0.14
- MetaSVM -1.03
- CADD 13.80
- PolyPhen-2 0.02
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available