S43G (p.Ser43Gly) variant of TTR (Transthyretin)
S43G (p.Ser43Gly) in TTR (Transthyretin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in AMYLD1. The record also includes variant effect predictions and structural context.
S43G (p.Ser43Gly) variant details
- p.Ser43Gly
- TOPMed rs11541800
- gnomAD rs11541800
- Uncertain significance
- in AMYLD1
- Missense
- MetaLR 0.76
- MetaSVM 0.31
- SIFT 0.00
- EBI: Variant of uncertain significance (in AMYLD1)
- UniProt: Uncertain significance (in AMYLD1)
- Structural context available