F2S (p.Phe2Ser) variant of FGA (Fibrinogen alpha chain)
F2S (p.Phe2Ser) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
F2S (p.Phe2Ser) variant details
- p.Phe2Ser
- TOPMed rs1227975411
- gnomAD rs1227975411
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.05
- CADD 18.70
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)