V39D (p.Val39Asp) variant of FGA (Fibrinogen alpha chain)
V39D (p.Val39Asp) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
V39D (p.Val39Asp) variant details
- p.Val39Asp
- rs121909614
- ClinGen CA126502
- ClinVar RCV000017874
- ClinVar RCV006277650
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.27
- CADD 24.00
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in Canterbury)
- UniProt: Pathogenic (in Canterbury)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Cited in: Aberrant hepatic processing causes removal of activation peptide and primary polymerisation site from fibrinogen… (PMID 8675656)