G279R (p.Gly279Arg) variant of SMN1 (Survival motor neuron protein)
G279R (p.Gly279Arg) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spinal muscular atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G279R (p.Gly279Arg) variant details
- p.Gly279Arg
- rs77969175
- ClinGen CA360098099
- ClinVar RCV002642356
- Pathogenic/Likely pathogenic
- Spinal muscular atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.05
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (Spinal muscular atrophy)
- EBI: Pathogenic (in SMA1)
- UniProt: Pathogenic (in SMA1)
- Structural context available
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: ACOG committee opinion No. 432: spinal muscular atrophy. (PMID 19384151)