H50Q (p.His50Gln) variant of FBN1 (Fibrillin-1)
H50Q (p.His50Gln) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions.
H50Q (p.His50Gln) variant details
- p.His50Gln
- rs1597652302
- ClinGen CA392453478
- ClinVar RCV000995353
- Ensembl rs1597652302
- Likely benign
- Missense
- AlphaMissense 0.14
- MetaLR 0.24
- MetaSVM -0.57
- SIFT 1.00
- MutPred 0.32
- EBI: Likely benign
- UniProt: Likely benign