C1619G (p.Cys1619Gly) variant of NSD1 (Q96L73)
C1619G (p.Cys1619Gly) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
C1619G (p.Cys1619Gly) variant details
- p.Cys1619Gly
- rs587784128
- ClinGen CA294915
- ClinVar RCV003231248
- Ensembl rs587784128
- Pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Sotos syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)