E43D (p.Glu43Asp) variant of UNC80 (Protein unc-80 homolog)
E43D (p.Glu43Asp) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- gnomAD 2-209773130-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- MetaLR 0.17
- MetaSVM -0.84
- CADD 24.30
- PolyPhen-2 0.81
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available