S42N (p.Ser42Asn) variant of FGB (Fibrinogen beta chain)
S42N (p.Ser42Asn) in FGB (Fibrinogen beta 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 0.10 / 1. The record also includes population frequency data and structural context.
S42N (p.Ser42Asn) variant details
- p.Ser42Asn
- ExAC rs773855571
- TOPMed rs773855571
- gnomAD rs773855571
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.07
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.09
- CADD 0.37
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available