G143E (p.Gly143Glu) variant of RUNX1 (Q01196)
G143E (p.Gly143Glu) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
G143E (p.Gly143Glu) variant details
- p.Gly143Glu
- rs2146236988
- ClinGen CA410208159
- cosmic curated COSV10517
- ClinVar RCV003391634
- Likely pathogenic
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: Likely pathogenic (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available