S262G (p.Ser262Gly) variant of SMN1 (Survival motor neuron protein)
S262G (p.Ser262Gly) 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 Kugelberg-Welander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
S262G (p.Ser262Gly) variant details
- p.Ser262Gly
- rs104893932
- Ensembl rs104893932
- ClinGen CA254694
- ClinVar RCV000009756
- Pathogenic
- Kugelberg-Welander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- AlphaMissense 0.51
- MetaLR 0.96
- MetaSVM 1.18
- SIFT 0.00
- MutPred 0.80
- ClinVar: Pathogenic (Kugelberg-Welander disease)
- 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)