I18T (p.Ile18Thr) variant of UNC80 (Protein unc-80 homolog)
I18T (p.Ile18Thr) 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.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- gnomAD 2-209772125-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- MetaLR 0.11
- MetaSVM -0.93
- CADD 23.70
- PolyPhen-2 0.13
- SIFT 0.00
- Population evidence available
- Literature evidence available