K93T (p.Lys93Thr) variant of SMN1 (Survival motor neuron protein)
K93T (p.Lys93Thr) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kugelberg-Welander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature.
K93T (p.Lys93Thr) variant details
- p.Lys93Thr
- rs1580886828
- cosmic curated COSV10748
- Ensembl rs1580886828
- ClinGen CA360093290
- Uncertain significance
- Kugelberg-Welander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- AlphaMissense 0.19
- MetaLR 0.92
- MetaSVM 0.83
- SIFT 0.14
- MutPred 0.55
- ClinVar: Uncertain significance (Kugelberg-Welander disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: Spinal Muscular Atrophy. (PMID 20301526)