E8K (p.Glu8Lys) variant of UNC80 (Protein unc-80 homolog)
E8K (p.Glu8Lys) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- gnomAD 2-209772094-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- MetaLR 0.04
- MetaSVM -1.09
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Literature evidence available