S8R (p.Ser8Arg) variant of RUNX1 (Q01196)
S8R (p.Ser8Arg) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
S8R (p.Ser8Arg) variant details
- p.Ser8Arg
- rs1569084817
- ClinGen CA410204309
- ClinVar RCV000812791
- ClinVar RCV004773184
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 0.92
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.15
- SIFT 0.00
- MutPred 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. (PMID 33661592)