R1914P (p.Arg1914Pro) variant of NSD1 (Q96L73)
R1914P (p.Arg1914Pro) 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 0.85 / 1. The record also includes published literature and structural context.
R1914P (p.Arg1914Pro) variant details
- p.Arg1914Pro
- rs587784155
- ClinGen CA294977
- ClinVar RCV003231276
- Ensembl rs587784155
- Likely pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (Sotos syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)