S22R (p.Ser22Arg) variant of FBN1 (Fibrillin-1)
S22R (p.Ser22Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions.
S22R (p.Ser22Arg) variant details
- p.Ser22Arg
- rs1555407420
- ClinGen CA392453783
- ClinVar RCV000586748
- Ensembl rs1555407420
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- AlphaMissense 0.19
- MetaLR 0.30
- MetaSVM -0.63
- SIFT 0.37
- MutPred 0.57
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance