S4G (p.Ser4Gly) variant of SMN1 (Survival motor neuron protein)
S4G (p.Ser4Gly) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S4G (p.Ser4Gly) variant details
- p.Ser4Gly
- Ensembl rs1446964734
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.36
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available