E17Q (p.Glu17Gln) variant of BBS4 (BBSome complex member BBS4)
E17Q (p.Glu17Gln) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E17Q (p.Glu17Gln) variant details
- p.Glu17Gln
- gnomAD 15-72695201-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.24
- MetaLR 0.22
- MetaSVM -0.82
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available