G106S (p.Gly106Ser) variant of SMN1 (Survival motor neuron protein)
G106S (p.Gly106Ser) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1.
G106S (p.Gly106Ser) variant details
- p.Gly106Ser
- rs1561499628
- ClinGen CA360093797
- ClinVar RCV000785803
- Ensembl rs1561499628
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.23
- MetaLR 0.97
- MetaSVM 1.08
- SIFT 0.00
- MutPred 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance