G279V (p.Gly279Val) variant of SMN1 (Survival motor neuron protein)
G279V (p.Gly279Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G279V (p.Gly279Val) variant details
- p.Gly279Val
- rs76163360
- ClinGen CA254679
- ClinVar RCV000009738
- UniProt VAR 005620
- Pathogenic
- Spinal muscular atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.06
- SIFT 0.00
- MutPred 0.92
- ClinVar: Pathogenic (Werdnig-Hoffmann disease)
- EBI: Pathogenic (in SMA1)
- UniProt: Pathogenic (in SMA1)
- Structural context available
- Cited in: Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. (PMID 14715275)
- Cited in: The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of… (PMID 21389246)