S45F (p.Ser45Phe) variant of UNC80 (Protein unc-80 homolog)
S45F (p.Ser45Phe) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S45F (p.Ser45Phe) variant details
- p.Ser45Phe
- gnomAD 2-209773135-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- MetaLR 0.22
- MetaSVM -0.69
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available