G11C (p.Gly11Cys) variant of SMN1 (Survival motor neuron protein)
G11C (p.Gly11Cys) 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.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- gnomAD 5-70049716-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.35
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available