D25Y (p.Asp25Tyr) variant of SMO (Protein smoothened)
D25Y (p.Asp25Tyr) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D25Y (p.Asp25Tyr) variant details
- p.Asp25Tyr
- gnomAD 7-129189224-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.22
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 2.3e-06)
- Structural context available
- Literature evidence available