C1920R (p.Cys1920Arg) variant of NSD1 (Q96L73)
C1920R (p.Cys1920Arg) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
C1920R (p.Cys1920Arg) variant details
- p.Cys1920Arg
- rs1554204122
- ClinGen CA362313106
- ClinVar RCV003232576
- Ensembl rs1554204122
- Likely pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Likely pathogenic (Sotos syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)