G46D (p.Gly46Asp) variant of FBN1 (Fibrillin-1)
G46D (p.Gly46Asp) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions.
G46D (p.Gly46Asp) variant details
- p.Gly46Asp
- rs1064797198
- ClinGen CA16621673
- ClinVar RCV000487617
- Ensembl rs1064797198
- Uncertain significance
- Missense
- AlphaMissense 0.19
- MetaLR 0.61
- MetaSVM 0.38
- SIFT 0.04
- MutPred 0.43
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance