T274A (p.Thr274Ala) variant of SMN1 (Survival motor neuron protein)
T274A (p.Thr274Ala) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T274A (p.Thr274Ala) variant details
- p.Thr274Ala
- rs1280023260
- gnomAD 5-70071282-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 3.12
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available