H1591Y (p.His1591Tyr) variant of NSD1 (Q96L73)
H1591Y (p.His1591Tyr) 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.
H1591Y (p.His1591Tyr) variant details
- p.His1591Tyr
- rs1554199368
- ClinGen CA362354732
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- Pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.60
- ClinVar: Pathogenic (Sotos syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)