P30R (p.Pro30Arg) variant of RUNX1 (Q01196)
P30R (p.Pro30Arg) 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 population frequency data, published literature, and structural context.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- rs1266842690
- ClinGen CA410204028
- ClinVar RCV000791802
- ClinVar RCV004773143
- Uncertain significance
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.48
- MetaLR 0.97
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.27
- ClinVar: Uncertain significance (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Benign
- UniProt: 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)