S48S (p.Ser48Ser) variant of UNC80 (Protein unc-80 homolog)
S48S (p.Ser48Ser) in UNC80 (Protein unc-80 homolog) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- gnomAD 2-209775891-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 12.90
- Population evidence available
- Structural context available
- Literature evidence available