K5E (p.Lys5Glu) variant of UNC80 (Protein unc-80 homolog)
K5E (p.Lys5Glu) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- gnomAD 2-209772085-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- MetaLR 0.19
- MetaSVM -0.77
- CADD 27.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Literature evidence available