V47V (p.Val47Val) variant of UNC80 (Protein unc-80 homolog)
V47V (p.Val47Val) in UNC80 (Protein unc-80 homolog) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V47V (p.Val47Val) variant details
- p.Val47Val
- gnomAD 2-209773142-G-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available