Y268C (p.Tyr268Cys) variant of SMN1 (Survival motor neuron protein)
Y268C (p.Tyr268Cys) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Spinal muscular atrophy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
Y268C (p.Tyr268Cys) variant details
- p.Tyr268Cys
- rs1554082113
- ClinGen CA360097121
- ClinVar RCV000517381
- ClinVar RCV002272276
- Conflicting interpretations
- Spinal muscular atrophy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- SIFT 0.00
- MutPred 0.89
- ClinVar: Conflicting classifications of pathogenicity (Spinal muscular atrophy; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: ACOG committee opinion No. 432: spinal muscular atrophy. (PMID 19384151)