C2183G (p.Cys2183Gly) variant of NSD1 (Q96L73)
C2183G (p.Cys2183Gly) 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 0.89 / 1. The record also includes published literature and structural context.
C2183G (p.Cys2183Gly) variant details
- p.Cys2183Gly
- rs1554207287
- ClinGen CA362323882
- ClinVar RCV003231551
- ClinVar RCV005208717
- Pathogenic/Likely pathogenic
- not provided; Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (not provided; Sotos syndrome)
- EBI: Pathogenic (in SOTOS)
- UniProt: Pathogenic (in SOTOS)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)