F2122L (p.Phe2122Leu) variant of NSD1 (Q96L73)
F2122L (p.Phe2122Leu) 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; Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
F2122L (p.Phe2122Leu) variant details
- p.Phe2122Leu
- rs1562305653
- ClinGen CA362320595
- ClinVar RCV001053071
- ClinVar RCV003232087
- Likely pathogenic
- Beckwith-Wiedemann syndrome; Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.74
- ClinVar: Likely pathogenic (Beckwith-Wiedemann syndrome; Sotos syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)