D25T (p.Asp25Thr) variant of SMO (Protein smoothened)
D25T (p.Asp25Thr) in SMO (Protein smoothened) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D25T (p.Asp25Thr) variant details
- p.Asp25Thr
- gnomAD 7-129189219-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available