Q164* (p.Gln164Ter) variant of SMN1 (Survival motor neuron protein)
Q164* (p.Gln164Ter) in SMN1 (Survival motor neuron protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature.
Q164* (p.Gln164Ter) variant details
- p.Gln164Ter
- rs1561499713
- ClinVar RCV004576181
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.08
- MetaLR 0.89
- MetaSVM 0.60
- SIFT 0.16
- MutPred 0.37
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: Spinal Muscular Atrophy. (PMID 20301526)