R1984Q (p.Arg1984Gln) variant of NSD1 (Q96L73)
R1984Q (p.Arg1984Gln) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sotos syndrome; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R1984Q (p.Arg1984Gln) variant details
- p.Arg1984Gln
- rs587784169
- ClinGen CA295010
- cosmic curated COSV61784
- ClinVar RCV000405920
- Pathogenic
- Sotos syndrome; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic (Sotos syndrome; Inborn genetic diseases; 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: The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation. (PMID 21196496)