A2D (p.Ala2Asp) variant of BBS4 (BBSome complex member BBS4)
A2D (p.Ala2Asp) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 15-72686232-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.37
- MetaLR 0.45
- MetaSVM -0.19
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available