G10S (p.Gly10Ser) variant of SMN1 (Survival motor neuron protein)
G10S (p.Gly10Ser) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- 1000Genomes rs895571119
- gnomAD rs895571119
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.32
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available