R1811Q (p.Arg1811Gln) variant of NSD1 (Q96L73)
R1811Q (p.Arg1811Gln) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R1811Q (p.Arg1811Gln) variant details
- p.Arg1811Gln
- rs587784149
- ClinGen CA294963
- NCI-TCGA Cosmic COSV6177
- cosmic curated COSV61778
- Pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.74
- ClinVar: Pathogenic (Sotos syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)