S3Y (p.Ser3Tyr) variant of FGA (Fibrinogen alpha chain)
S3Y (p.Ser3Tyr) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
S3Y (p.Ser3Tyr) variant details
- p.Ser3Tyr
- cosmic curated COSV10012
- ExAC rs771156473
- TOPMed rs771156473
- gnomAD rs771156473
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.14
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.4e-05)