R28L (p.Arg28Leu) variant of UNC80 (Protein unc-80 homolog)
R28L (p.Arg28Leu) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- gnomAD 2-209772155-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- MetaLR 0.11
- MetaSVM -0.85
- CADD 25.20
- PolyPhen-2 0.21
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available