T274I (p.Thr274Ile) variant of SMN1 (Survival motor neuron protein)
T274I (p.Thr274Ile) 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 not provided; Kugelberg-Welander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T274I (p.Thr274Ile) variant details
- p.Thr274Ile
- rs1554066666
- ClinGen CA254673
- ClinVar RCV000009734
- ClinVar RCV000009735
- Conflicting interpretations
- not provided; Kugelberg-Welander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.97
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Kugelberg-Welander disease)
- EBI: Pathogenic (in SMA2 and SMA3)
- UniProt: Pathogenic (in SMA2 and SMA3)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)