E4D (p.Glu4Asp) variant of BBS4 (BBSome complex member BBS4)
E4D (p.Glu4Asp) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- gnomAD 15-72686239-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.24
- MetaLR 0.21
- MetaSVM -0.96
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available