N1166T (p.Asn1166Thr) variant of SMC1A (Q14683)
N1166T (p.Asn1166Thr) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
N1166T (p.Asn1166Thr) variant details
- p.Asn1166Thr
- rs1556885810
- ClinGen CA413242605
- ClinVar RCV000995878
- UniProt VAR 078277
- Pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.63
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Structural context available
- Cited in: Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and… (PMID 24124034)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)