G2669R (p.Gly2669Arg) variant of FBN1 (Fibrillin-1)
G2669R (p.Gly2669Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Stiff skin syndrome. The record also includes variant effect predictions.
G2669R (p.Gly2669Arg) variant details
- p.Gly2669Arg
- rs794728281
- ClinGen CA392322689
- ClinVar RCV003148059
- Likely pathogenic
- Stiff skin syndrome
- Missense
- AlphaMissense 0.97
- MetaLR 0.92
- MetaSVM 1.03
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Stiff skin syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic