Y1997H (p.Tyr1997His) variant of NSD1 (Q96L73)
Y1997H (p.Tyr1997His) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sotos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Y1997H (p.Tyr1997His) variant details
- p.Tyr1997His
- rs587784171
- ClinGen CA295015
- ClinVar RCV000493770
- ClinVar RCV003231291
- Pathogenic
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Sotos syndrome; not provided)
- EBI: Pathogenic (in SOTOS)
- UniProt: Pathogenic (in SOTOS)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)