C8R (p.Cys8Arg) variant of FGA (Fibrinogen alpha chain)
C8R (p.Cys8Arg) in FGA (Fibrinogen alpha chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
C8R (p.Cys8Arg) variant details
- p.Cys8Arg
- gnomAD rs1730845993
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.28
- CADD 24.40
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)