C46W (p.Cys46Trp) variant of UNC80 (Protein unc-80 homolog)
C46W (p.Cys46Trp) 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, published literature, and structural context.
C46W (p.Cys46Trp) variant details
- p.Cys46Trp
- gnomAD 2-209773139-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- MetaLR 0.22
- MetaSVM -0.80
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available