D49Y (p.Asp49Tyr) variant of FGA (Fibrinogen alpha chain)
D49Y (p.Asp49Tyr) 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 0.60 / 1. The record also includes population frequency data.
D49Y (p.Asp49Tyr) variant details
- p.Asp49Tyr
- rs755864144
- NCI-TCGA Cosmic COSV5739
- cosmic curated COSV57394
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.52
- CADD 28.20
- PolyPhen-2 0.85
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)