p.Ser8 Gly11del variant of SMN1 (Survival motor neuron protein)
p.Ser8 Gly11del in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser8 Gly11del variant details
- rs1490073523
- gnomAD 5-70049700-CGGCGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.197
- CADD 16.40
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available