N1913S (p.Asn1913Ser) variant of NSD1 (Q96L73)
N1913S (p.Asn1913Ser) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
N1913S (p.Asn1913Ser) variant details
- p.Asn1913Ser
- rs2127257170
- ClinGen CA362312937
- ClinVar RCV003232573
- Ensembl rs2127257170
- Pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Sotos syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)