D25E (p.Asp25Glu) variant of SMO (Protein smoothened)
D25E (p.Asp25Glu) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D25E (p.Asp25Glu) variant details
- p.Asp25Glu
- gnomAD 7-129189226-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.28
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available