Q2030P (p.Gln2030Pro) variant of NSD1 (Q96L73)
Q2030P (p.Gln2030Pro) 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 0.77 / 1. The record also includes published literature and structural context.
Q2030P (p.Gln2030Pro) variant details
- p.Gln2030Pro
- rs1554204952
- ClinGen CA362316494
- ClinVar RCV000543532
- Ensembl rs1554204952
- Likely pathogenic
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- 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)