R28W (p.Arg28Trp) variant of SMO (Protein smoothened)
R28W (p.Arg28Trp) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R28W (p.Arg28Trp) variant details
- p.Arg28Trp
- TOPMed rs1041213948
- gnomAD rs1041213948
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.28
- MetaLR 0.22
- MetaSVM -0.48
- CADD 24.20
- PolyPhen-2 0.23
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available