S22G (p.Ser22Gly) variant of FBN1 (Fibrillin-1)
S22G (p.Ser22Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions.
S22G (p.Ser22Gly) variant details
- p.Ser22Gly
- rs2140787724
- ClinGen CA392453796
- ClinVar RCV003237508
- Ensembl rs2140787724
- Uncertain significance
- not provided
- Missense
- AlphaMissense 0.07
- MetaLR 0.33
- MetaSVM -0.70
- SIFT 0.63
- MutPred 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance