S95W (p.Ser95Trp) variant of FBN1 (Fibrillin-1)
S95W (p.Ser95Trp) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions.
S95W (p.Ser95Trp) variant details
- p.Ser95Trp
- rs922684362
- ClinGen CA392447030
- ClinVar RCV000859996
- TOPMed rs922684362
- Pathogenic
- Missense
- AlphaMissense 0.98
- MetaLR 0.71
- MetaSVM 0.52
- SIFT 0.01
- MutPred 0.48
- EBI: Pathogenic
- UniProt: Pathogenic