M2042T (p.Met2042Thr) variant of NOTCH2 (Q04721)
M2042T (p.Met2042Thr) 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 0.39 / 1. The record also includes published literature and structural context.
M2042T (p.Met2042Thr) variant details
- p.Met2042Thr
- rs1649084282
- ClinGen CA341880783
- ClinVar RCV001310089
- Ensembl rs1649084282
- Pathogenic
- Alagille syndrome due to a NOTCH2 point mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.70
- MetaLR 0.04
- MetaSVM -1.06
- PolyPhen-2 0.62
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Alagille syndrome due to a NOTCH2 point mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alagille Syndrome. (PMID 20301450)