G332A (p.Gly332Ala) variant of F2 (Prothrombin)
G332A (p.Gly332Ala) 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 0.81 / 1. The record also includes structural context.
G332A (p.Gly332Ala) variant details
- p.Gly332Ala
- rs2134532862
- ClinGen CA380267082
- ClinVar RCV001420453
- Ensembl rs2134532862
- Likely pathogenic
- Congenital prothrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.52
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Congenital prothrombin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available