S4T (p.Ser4Thr) variant of SMN1 (Survival motor neuron protein)
S4T (p.Ser4Thr) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S4T (p.Ser4Thr) variant details
- p.Ser4Thr
- gnomAD rs1408282671
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.43
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available