H1616R (p.His1616Arg) variant of NSD1 (Q96L73)
H1616R (p.His1616Arg) 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 0.89 / 1. The record also includes published literature and structural context.
H1616R (p.His1616Arg) variant details
- p.His1616Arg
- rs1756522180
- ClinGen CA362355354
- ClinVar RCV003232188
- ClinVar RCV004597951
- Pathogenic
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Sotos syndrome; not provided)
- EBI: Pathogenic (in SOTOS)
- UniProt: Pathogenic (in SOTOS)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)