K5N (p.Lys5Asn) variant of UNC80 (Protein unc-80 homolog)
K5N (p.Lys5Asn) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
K5N (p.Lys5Asn) variant details
- p.Lys5Asn
- gnomAD 2-209772087-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- MetaLR 0.16
- MetaSVM -0.88
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Literature evidence available