G9C (p.Gly9Cys) variant of SMN1 (Survival motor neuron protein)
G9C (p.Gly9Cys) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G9C (p.Gly9Cys) variant details
- p.Gly9Cys
- gnomAD rs1372819533
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.36
- CADD 22.80
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available