I2007T (p.Ile2007Thr) variant of NSD1 (Q96L73)
I2007T (p.Ile2007Thr) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Marfanoid habitus and intellectual disability; not provided; Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
I2007T (p.Ile2007Thr) variant details
- p.Ile2007Thr
- rs1554204921
- ClinGen CA362316142
- NCI-TCGA Cosmic COSV6177
- cosmic curated COSV61772
- Pathogenic/Likely pathogenic
- Marfanoid habitus and intellectual disability; not provided; Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (Marfanoid habitus and intellectual disability; not provided; Sot)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)