G1762C (p.Gly1762Cys) variant of FBN1 (Fibrillin-1)
G1762C (p.Gly1762Cys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acromicric dysplasia. The record also includes variant effect predictions.
G1762C (p.Gly1762Cys) variant details
- p.Gly1762Cys
- rs387906623
- ClinGen CA392347973
- NCI-TCGA Cosmic COSV1003
- ClinVar RCV002306430
- Likely pathogenic
- Acromicric dysplasia
- Missense
- AlphaMissense 0.72
- MetaLR 0.43
- MetaSVM -0.15
- SIFT 0.01
- MutPred 0.56
- ClinVar: Likely pathogenic (Acromicric dysplasia)
- EBI: Likely pathogenic (in GPHYSD2)
- UniProt: Likely pathogenic (in GPHYSD2)