S46R (p.Ser46Arg) variant of RUNX1 (Q01196)
S46R (p.Ser46Arg) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S46R (p.Ser46Arg) variant details
- p.Ser46Arg
- rs1157495777
- ClinGen CA410203871
- ClinVar RCV001341123
- ClinVar RCV005001206
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.61
- MetaLR 0.91
- MetaSVM 0.91
- PolyPhen-2 0.39
- SIFT 0.26
- MutPred 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. (PMID 33661592)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)