C1640Y (p.Cys1640Tyr) variant of NSD1 (Q96L73)
C1640Y (p.Cys1640Tyr) 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 0.90 / 1. The record also includes published literature and structural context.
C1640Y (p.Cys1640Tyr) variant details
- p.Cys1640Tyr
- rs2149912636
- ClinGen CA362356118
- ClinVar RCV003232874
- Ensembl rs2149912636
- Pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Sotos syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)