S42T (p.Ser42Thr) variant of FGB (Fibrinogen beta chain)
S42T (p.Ser42Thr) in FGB (Fibrinogen beta chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.27 / 1. The record also includes population frequency data and structural context.
S42T (p.Ser42Thr) variant details
- p.Ser42Thr
- rs773855571
- ClinGen CA358508247
- ClinVar RCV002766704
- ExAC rs773855571
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.09
- PolyPhen-2 0.00
- SIFT 0.31
- EVE 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available