V62A (p.Val62Ala) variant of FGG (Fibrinogen gamma chain)
V62A (p.Val62Ala) in FGG (Fibrinogen gamma chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thromboembolism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V62A (p.Val62Ala) variant details
- p.Val62Ala
- rs1578812818
- ClinGen CA358538328
- ClinVar RCV000852061
- Ensembl rs1578812818
- Uncertain significance
- Thromboembolism
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.44
- CADD 23.30
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Uncertain significance (Thromboembolism)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available