R2005Q (p.Arg2005Gln) variant of NSD1 (Q96L73)
R2005Q (p.Arg2005Gln) 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; Inborn genetic diseases; 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.
R2005Q (p.Arg2005Gln) variant details
- p.Arg2005Gln
- rs587784174
- ClinGen CA295024
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- Pathogenic/Likely pathogenic
- Sotos syndrome; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (Sotos syndrome; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in SOTOS)
- UniProt: Pathogenic (in SOTOS)
- Structural context available
- Cited in: NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other… (PMID 12464997)
- Cited in: The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation. (PMID 21196496)