R1952W (p.Arg1952Trp) variant of NSD1 (Q96L73)
R1952W (p.Arg1952Trp) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Sotos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
R1952W (p.Arg1952Trp) variant details
- p.Arg1952Trp
- rs886041219
- ClinGen CA10602921
- NCI-TCGA Cosmic COSV6177
- cosmic curated COSV61771
- Pathogenic/Likely pathogenic
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 0.98
- MetaLR 0.82
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Sotos syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)