G1656C (p.Gly1656Cys) variant of NSD1 (Q96L73)
G1656C (p.Gly1656Cys) 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 0.92 / 1. The record also includes published literature and structural context.
G1656C (p.Gly1656Cys) variant details
- p.Gly1656Cys
- rs587784132
- ClinGen CA294923
- cosmic curated COSV61771
- ClinVar RCV003231253
- Pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.98
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.68
- ClinVar: Pathogenic (Sotos syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)