D80G (p.Asp80Gly) variant of FGA (Fibrinogen alpha chain)
D80G (p.Asp80Gly) in FGA (Fibrinogen alpha chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
D80G (p.Asp80Gly) variant details
- p.Asp80Gly
- cosmic curated COSV57402
- ExAC rs747854049
- gnomAD rs747854049
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.69
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)