C444Y (p.Cys444Tyr) variant of NOTCH2 (Q04721)
C444Y (p.Cys444Tyr) 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 0.93 / 1. The record also includes published literature and structural context.
C444Y (p.Cys444Tyr) variant details
- p.Cys444Tyr
- rs111033632
- ClinGen CA340897
- ClinVar RCV000009811
- UniProt VAR 029361
- Pathogenic
- Alagille syndrome due to a NOTCH2 point mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Alagille syndrome due to a NOTCH2 point mutation)
- EBI: Pathogenic (in ALGS2)
- UniProt: Pathogenic (in ALGS2)
- Structural context available
- Cited in: NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. (PMID 16773578)
- Cited in: Alagille Syndrome. (PMID 20301450)