G11S (p.Gly11Ser) variant of SMN1 (Survival motor neuron protein)
G11S (p.Gly11Ser) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- gnomAD 5-70049716-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.35
- CADD 12.50
- PolyPhen-2 0.07
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available