E3V (p.Glu3Val) variant of BBS4 (BBSome complex member BBS4)
E3V (p.Glu3Val) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E3V (p.Glu3Val) variant details
- p.Glu3Val
- gnomAD 15-72686235-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.34
- MetaLR 0.42
- MetaSVM -0.41
- CADD 25.50
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available