M380T (p.Met380Thr) variant of F2 (Prothrombin)
M380T (p.Met380Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
M380T (p.Met380Thr) variant details
- p.Met380Thr
- rs121918481
- ClinGen CA123011
- ClinVar RCV002468928
- UniProt VAR 006714
- Pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- AlphaMissense 0.94
- MetaLR 0.79
- MetaSVM 0.81
- PolyPhen-2 1.00
- EVE 0.78
- MutPred 0.88
- ClinVar: Pathogenic (Congenital prothrombin deficiency)
- EBI: Pathogenic (in FA2D)
- UniProt: Pathogenic (in FA2D)
- Structural context available
- Cited in: Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His). (PMID 1421398)
- Cited in: Detection of a single base substitution of the gene for prothrombin Tokushima. The application of PCR-SSCP for the… (PMID 1349838)