N1166S (p.Asn1166Ser) variant of SMC1A (Q14683)
N1166S (p.Asn1166Ser) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; 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.
N1166S (p.Asn1166Ser) variant details
- p.Asn1166Ser
- rs1556885810
- ClinGen CA413242604
- ClinVar RCV000624551
- ClinVar RCV002531886
- Conflicting interpretations
- Inborn genetic diseases; 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: Conflicting classifications of pathogenicity (Inborn genetic diseases; Congenital muscular hypertrophy-cerebra)
- EBI: Pathogenic (in CDLS2)
- UniProt: Pathogenic (in CDLS2)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)