G77R (p.Gly77Arg) variant of FBN1 (Fibrillin-1)
G77R (p.Gly77Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions and published literature.
G77R (p.Gly77Arg) variant details
- p.Gly77Arg
- rs794728290
- ClinGen CA012938
- NCI-TCGA Cosmic COSV5732
- ClinVar RCV000181641
- Likely pathogenic
- Missense
- AlphaMissense 0.97
- MetaLR 0.71
- MetaSVM 0.26
- SIFT 0.26
- MutPred 0.52
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)