C47R (p.Cys47Arg) variant of FGA (Fibrinogen alpha chain)
C47R (p.Cys47Arg) in FGA (Fibrinogen alpha chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
C47R (p.Cys47Arg) variant details
- p.Cys47Arg
- Ensembl rs918801719
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.75
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)