E17K (p.Glu17Lys) variant of BBS4 (BBSome complex member BBS4)
E17K (p.Glu17Lys) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- gnomAD 15-72695201-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.27
- MetaLR 0.20
- MetaSVM -0.90
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available