R2017W (p.Arg2017Trp) variant of NSD1 (Q96L73)
R2017W (p.Arg2017Trp) 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 0.92 / 1. The record also includes published literature and structural context.
R2017W (p.Arg2017Trp) variant details
- p.Arg2017Trp
- rs587784176
- ClinGen CA295029
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- Pathogenic
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Sotos syndrome; not provided)
- EBI: Pathogenic (in SOTOS)
- UniProt: Pathogenic (in SOTOS)
- Structural context available
- Cited in: Spectrum of NSD1 mutations in Sotos and Weaver syndromes. (PMID 12807965)
- Cited in: Sotos Syndrome. (PMID 20301652)