T274S (p.Thr274Ser) variant of SMN1 (Survival motor neuron protein)
T274S (p.Thr274Ser) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T274S (p.Thr274Ser) variant details
- p.Thr274Ser
- gnomAD 5-70071325-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 2.44
- Population evidence available
- Structural context available
- Literature evidence available