I1976K (p.Ile1976Lys) variant of NSD1 (Q96L73)
I1976K (p.Ile1976Lys) 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 0.82 / 1. The record also includes published literature and structural context.
I1976K (p.Ile1976Lys) variant details
- p.Ile1976Lys
- rs587784167
- ClinGen CA295004
- ClinVar RCV003231287
- Ensembl rs587784167
- Likely pathogenic
- 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: Likely pathogenic (Sotos syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)