R16L (p.Arg16Leu) variant of UNC80 (Protein unc-80 homolog)
R16L (p.Arg16Leu) 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.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- gnomAD 2-209772119-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- MetaLR 0.03
- MetaSVM -1.06
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Literature evidence available