G7C (p.Gly7Cys) variant of SMN1 (Survival motor neuron protein)
G7C (p.Gly7Cys) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G7C (p.Gly7Cys) variant details
- p.Gly7Cys
- gnomAD 5-70049704-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.46
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available