Q164K (p.Gln164Lys) variant of SMN1 (Survival motor neuron protein)
Q164K (p.Gln164Lys) 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; Werdnig-Hoffmann disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature.
Q164K (p.Gln164Lys) variant details
- p.Gln164Lys
- rs1561499713
- Ensembl rs1561499713
- ClinGen CA360095061
- ClinVar RCV000785802
- Uncertain significance
- not provided; Werdnig-Hoffmann disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.08
- MetaLR 0.89
- MetaSVM 0.60
- SIFT 0.16
- MutPred 0.37
- ClinVar: Uncertain significance (not provided; Werdnig-Hoffmann disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: Spinal Muscular Atrophy. (PMID 20301526)