E8D (p.Glu8Asp) variant of UNC80 (Protein unc-80 homolog)
E8D (p.Glu8Asp) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- ExAC rs769004783
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- MetaLR 0.02
- MetaSVM -1.06
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)