G95R (p.Gly95Arg) variant of SMN1 (Survival motor neuron protein)
G95R (p.Gly95Arg) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spinal muscular atrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G95R (p.Gly95Arg) variant details
- p.Gly95Arg
- rs104893927
- Ensembl rs104893927
- ClinGen CA254690
- ClinVar RCV000009753
- Pathogenic
- Spinal muscular atrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.86
- MetaLR 0.98
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic (Spinal muscular atrophy; not provided)
- EBI: Pathogenic (in SMA3)
- UniProt: Pathogenic (in SMA3)
- Structural context available
- Cited in: Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. (PMID 15580564)
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)