G1792E (p.Gly1792Glu) variant of NSD1 (Q96L73)
G1792E (p.Gly1792Glu) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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.
G1792E (p.Gly1792Glu) variant details
- p.Gly1792Glu
- rs587784143
- ClinGen CA294947
- ClinVar RCV003231264
- Ensembl rs587784143
- Pathogenic/Likely pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (Sotos syndrome)
- EBI: Pathogenic (in SOTOS)
- UniProt: Pathogenic (in SOTOS)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)