R42S (p.Arg42Ser) variant of FGA (Fibrinogen alpha chain)
R42S (p.Arg42Ser) in FGA (Fibrinogen alpha chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data.
R42S (p.Arg42Ser) variant details
- p.Arg42Ser
- ExAC rs772612419
- gnomAD rs772612419
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.07
- CADD 10.40
- PolyPhen-2 0.18
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)