S262I (p.Ser262Ile) variant of SMN1 (Survival motor neuron protein)
S262I (p.Ser262Ile) 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 not provided; Kugelberg-Welander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
S262I (p.Ser262Ile) variant details
- p.Ser262Ile
- rs1554066659
- Ensembl rs1554066659
- ClinGen CA254675
- ClinVar RCV000009736
- Pathogenic/Likely pathogenic
- not provided; Kugelberg-Welander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.13
- SIFT 0.00
- MutPred 0.83
- ClinVar: Pathogenic/Likely pathogenic (not provided; Kugelberg-Welander disease)
- EBI: Pathogenic (in SMA3)
- UniProt: Pathogenic (in SMA3)
- Structural context available
- Cited in: Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). (PMID 9158159)
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)