L29S (p.Leu29Ser) variant of RUNX1 (Q01196)
L29S (p.Leu29Ser) 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 hematological cancer predisposition syndrome ass. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L29S (p.Leu29Ser) variant details
- p.Leu29Ser
- rs111527738
- ClinGen CA10014578
- cosmic curated COSV55866
- ClinVar RCV000226755
- Benign
- Hereditary thrombocytopenia and hematological cancer predisposition syndrome ass
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 0.18
- MetaLR 0.90
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.51
- EVE 0.07
- ClinVar: Benign (Hereditary thrombocytopenia and hematological cancer predisposit)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)