W267C (p.Trp267Cys) variant of SMN1 (Survival motor neuron protein)
W267C (p.Trp267Cys) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and published literature.
W267C (p.Trp267Cys) variant details
- p.Trp267Cys
- gnomAD 5-70070718-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.97
- CADD 32.00
- Population evidence available
- Literature evidence available