H1882Y (p.His1882Tyr) variant of NOTCH2 (Q04721)
H1882Y (p.His1882Tyr) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alagille syndrome due to a NOTCH2 point mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
H1882Y (p.His1882Tyr) variant details
- p.His1882Tyr
- rs1570658378
- ClinGen CA341884407
- ClinVar RCV000845111
- Ensembl rs1570658378
- Pathogenic
- Alagille syndrome due to a NOTCH2 point mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.97
- MetaLR 0.54
- MetaSVM 0.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (Alagille syndrome due to a NOTCH2 point mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alagille Syndrome. (PMID 20301450)