I1962T (p.Ile1962Thr) variant of NSD1 (Q96L73)
I1962T (p.Ile1962Thr) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sotos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
I1962T (p.Ile1962Thr) variant details
- p.Ile1962Thr
- rs587784162
- ClinGen CA294995
- ClinVar RCV003231282
- ClinVar RCV005208701
- Pathogenic
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.08
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Sotos syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)