V365E (p.Val365Glu) variant of F2 (Prothrombin)
V365E (p.Val365Glu) in F2 (Prothrombin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital prothrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
V365E (p.Val365Glu) variant details
- p.Val365Glu
- rs747234596
- ClinGen CA380267974
- ClinVar RCV002245495
- ExAC rs747234596
- Likely pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.71
- MetaLR 0.82
- MetaSVM 0.78
- PolyPhen-2 0.55
- EVE 0.59
- MutPred 0.64
- ClinVar: Likely pathogenic (Congenital prothrombin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available