G275S (p.Gly275Ser) variant of SMN1 (Survival motor neuron protein)
G275S (p.Gly275Ser) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G275S (p.Gly275Ser) variant details
- p.Gly275Ser
- rs77301881
- ClinGen CA120725213
- ClinVar RCV003489437
- UniProt VAR 005619
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.91
- SIFT 0.00
- MutPred 0.96
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in SMA3)
- UniProt: Pathogenic (in SMA3)
- Structural context available
- Cited in: The survival motor neuron protein forms soluble glycine zipper oligomers. (PMID 23022347)
- Cited in: Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal… (PMID 9837824)