G125D (p.Gly125Asp) variant of F5 (Coagulation factor V)
G125D (p.Gly125Asp) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Budd-Chiari syndrome; Thrombophilia due to thrombin defect; Factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G125D (p.Gly125Asp) variant details
- p.Gly125Asp
- rs760694648
- ClinGen CA1234628
- ClinVar RCV001096270
- ClinVar RCV001096272
- Uncertain significance
- Budd-Chiari syndrome; Thrombophilia due to thrombin defect; Factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Budd-Chiari syndrome; Thrombophilia due to thrombin defect; Fact)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)
- Cited in: Factor V Leiden Thrombophilia. (PMID 20301542)