A7G (p.Ala7Gly) variant of RUNX1 (Q01196)
A7G (p.Ala7Gly) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- rs2058006183
- ClinGen CA410204316
- ClinVar RCV003442624
- ClinVar RCV004775401
- Uncertain significance
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.38
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 0.08
- SIFT 0.00
- MutPred 0.30
- ClinVar: Uncertain significance (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available