W71S (p.Trp71Ser) variant of FBN1 (Fibrillin-1)
W71S (p.Trp71Ser) 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.
W71S (p.Trp71Ser) variant details
- p.Trp71Ser
- rs794728289
- ClinGen CA012802
- ClinVar RCV000181640
- Ensembl rs794728289
- Pathogenic
- Missense
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.86
- SIFT 0.00
- MutPred 0.85
- EBI: Pathogenic
- UniProt: Pathogenic