R1663C (p.Arg1663Cys) variant of NSD1 (Q96L73)
R1663C (p.Arg1663Cys) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R1663C (p.Arg1663Cys) variant details
- p.Arg1663Cys
- rs587784134
- ClinGen CA294927
- cosmic curated COSV10072
- ClinVar RCV001753524
- Pathogenic
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.98
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Sotos syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)