S5G (p.Ser5Gly) variant of SMN1 (Survival motor neuron protein)
S5G (p.Ser5Gly) 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.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- Ensembl rs1259001921
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.34
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available