G6C (p.Gly6Cys) variant of SMN1 (Survival motor neuron protein)
G6C (p.Gly6Cys) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- gnomAD rs1208576707
- Missense
- MetaLR 0.91
- MetaSVM 0.63
- SIFT 0.01
- Structural context available