D80Y (p.Asp80Tyr) variant of FGA (Fibrinogen alpha chain)
D80Y (p.Asp80Tyr) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
D80Y (p.Asp80Tyr) variant details
- p.Asp80Tyr
- rs1208077350
- NCI-TCGA Cosmic COSV5739
- cosmic curated COSV57392
- gnomAD rs1208077350
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.71
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)