A44T (p.Ala44Thr) variant of UNC80 (Protein unc-80 homolog)
A44T (p.Ala44Thr) 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.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- gnomAD 2-209773131-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- MetaLR 0.21
- MetaSVM -0.71
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available