V14L (p.Val14Leu) variant of FGA (Fibrinogen alpha chain)
V14L (p.Val14Leu) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- TOPMed rs1301255964
- gnomAD rs1301255964
- Uncertain significance
- Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.10
- CADD 14.20
- PolyPhen-2 0.03
- SIFT 0.51
- ClinVar: Uncertain significance (Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)