H78Q (p.His78Gln) variant of RUNX1 (Q01196)
H78Q (p.His78Gln) 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.
H78Q (p.His78Gln) variant details
- p.His78Gln
- rs1601528621
- cosmic curated COSV55894
- Ensembl rs1601528621
- ClinGen CA410203511
- Likely pathogenic
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available