I784T (p.Ile784Thr) variant of SMC1A (Q14683)
I784T (p.Ile784Thr) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Congenital muscular hypertrophy-cerebral. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
I784T (p.Ile784Thr) variant details
- p.Ile784Thr
- rs387906702
- ClinGen CA259690
- ClinVar RCV000022820
- ClinVar RCV000441375
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Congenital muscular hypertrophy-cerebral
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.59
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Congenital muscular hyper)
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Structural context available
- Cited in: Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. (PMID 20635401)
- Cited in: Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and… (PMID 24124034)