A53D (p.Ala53Asp) variant of BBS4 (BBSome complex member BBS4)
A53D (p.Ala53Asp) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A53D (p.Ala53Asp) variant details
- p.Ala53Asp
- ExAC rs750645085
- TOPMed rs750645085
- gnomAD rs750645085
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.09
- MetaLR 0.19
- MetaSVM -0.83
- CADD 19.70
- PolyPhen-2 0.44
- SIFT 0.49
- Population evidence available
- Structural context available