E3D (p.Glu3Asp) variant of BBS4 (BBSome complex member BBS4)
E3D (p.Glu3Asp) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- gnomAD 15-72686236-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.32
- MetaLR 0.28
- MetaSVM -0.74
- CADD 22.00
- PolyPhen-2 0.90
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available