R8W (p.Arg8Trp) variant of SMO (Protein smoothened)
R8W (p.Arg8Trp) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- gnomAD 7-129189173-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.45
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 4e-05)
- Structural context available
- Literature evidence available