I68T (p.Ile68Thr) variant of SCN1A (P35498)
I68T (p.Ile68Thr) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I68T (p.Ile68Thr) variant details
- p.Ile68Thr
- rs758871507
- ClinGen CA1943556
- ClinVar RCV000781834
- ClinVar RCV001759474
- Uncertain significance
- Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- AlphaMissense 0.38
- MetaLR 0.91
- MetaSVM 1.08
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Intellectual disability)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Genotype-phenotype associations in SCN1A-related epilepsies. (PMID 21248271)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)