I1976T (p.Ile1976Thr) variant of NSD1 (Q96L73)
I1976T (p.Ile1976Thr) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
I1976T (p.Ile1976Thr) variant details
- p.Ile1976Thr
- rs587784167
- ClinGen CA362315804
- ClinVar RCV003231627
- ClinVar RCV005091107
- Pathogenic/Likely pathogenic
- not provided; Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (not provided; Sotos syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)