E4V (p.Glu4Val) variant of BBS4 (BBSome complex member BBS4)
E4V (p.Glu4Val) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E4V (p.Glu4Val) variant details
- p.Glu4Val
- gnomAD 15-72686238-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.23
- MetaLR 0.23
- MetaSVM -0.82
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available