R16S (p.Arg16Ser) variant of UNC80 (Protein unc-80 homolog)
R16S (p.Arg16Ser) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
R16S (p.Arg16Ser) variant details
- p.Arg16Ser
- gnomAD 2-209772118-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- MetaLR 0.05
- MetaSVM -1.09
- CADD 22.00
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Literature evidence available