A33V (p.Ala33Val) variant of RUNX1 (Q01196)
A33V (p.Ala33Val) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs765314703
- ClinGen CA10014576
- cosmic curated COSV55876
- ClinVar RCV000556930
- Benign
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.08
- MetaLR 0.86
- MetaSVM 0.57
- PolyPhen-2 0.95
- SIFT 0.16
- EVE 0.28
- ClinVar: Benign (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. (PMID 33661592)