R5K (p.Arg5Lys) variant of BBS4 (BBSome complex member BBS4)
R5K (p.Arg5Lys) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R5K (p.Arg5Lys) variant details
- p.Arg5Lys
- gnomAD 15-72686241-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -0.97
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available