R1914H (p.Arg1914His) variant of NSD1 (Q96L73)
R1914H (p.Arg1914His) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Sotos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R1914H (p.Arg1914His) variant details
- p.Arg1914His
- rs587784155
- ClinGen CA362312978
- cosmic curated COSV61786
- ClinVar RCV001771025
- Conflicting interpretations
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.82
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Sotos syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)