R500Q (p.Arg500Gln) variant of F2 (Prothrombin)
R500Q (p.Arg500Gln) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital prothrombin deficiency; Pregnancy loss, recurrent, susceptibility to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R500Q (p.Arg500Gln) variant details
- p.Arg500Gln
- rs202003146
- ClinGen CA5967314
- ClinVar RCV003515537
- ClinVar RCV004736344
- Pathogenic
- Congenital prothrombin deficiency; Pregnancy loss, recurrent, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.87
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Congenital prothrombin deficiency; Pregnancy loss, recurrent, su)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart… (PMID 25355838)
- Cited in: Clinical guidelines for testing for heritable thrombophilia. (PMID 20128794)