G279C (p.Gly279Cys) variant of SMN1 (Survival motor neuron protein)
G279C (p.Gly279Cys) 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 population frequency data, published literature, and structural context.
G279C (p.Gly279Cys) variant details
- p.Gly279Cys
- rs77969175
- UniProt VAR 007990
- gnomAD rs77969175
- 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 SMA2 and SMA3)
- UniProt: Pathogenic (in SMA2 and SMA3)
- Population evidence available
- Structural context available
- Cited in: Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy. (PMID 10732802)
- Cited in: Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. (PMID 14715275)