Y1804N (p.Tyr1804Asn) variant of NSD1 (Q96L73)
Y1804N (p.Tyr1804Asn) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Beckwith-Wiedemann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
Y1804N (p.Tyr1804Asn) variant details
- p.Tyr1804Asn
- rs1581497686
- ClinGen CA362306968
- ClinVar RCV000799306
- Ensembl rs1581497686
- Likely pathogenic
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.48
- ClinVar: Likely pathogenic (Beckwith-Wiedemann syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)