S3F (p.Ser3Phe) variant of FGA (Fibrinogen alpha chain)
S3F (p.Ser3Phe) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial visceral amyloidosis, Ostertag type; Familial dysfibrinogenemia; Congen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- rs771156473
- ClinGen CA3115422
- cosmic curated COSV57393
- ClinVar RCV001338449
- Uncertain significance
- Familial visceral amyloidosis, Ostertag type; Familial dysfibrinogenemia; Congen
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.15
- CADD 23.50
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (Familial visceral amyloidosis, Ostertag type; Familial dysfibrin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00014)