G6S (p.Gly6Ser) variant of SMN1 (Survival motor neuron protein)
G6S (p.Gly6Ser) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- Ensembl rs1244662996
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.31
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.32
- Population evidence available
- Structural context available