G10C (p.Gly10Cys) variant of SMN1 (Survival motor neuron protein)
G10C (p.Gly10Cys) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- 1000Genomes rs895571119
- gnomAD rs895571119
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.36
- CADD 12.90
- PolyPhen-2 0.10
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available