P22H (p.Pro22His) variant of TTR (Transthyretin)
P22H (p.Pro22His) in TTR (Transthyretin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
P22H (p.Pro22His) variant details
- p.Pro22His
- TOPMed rs1215630426
- gnomAD rs1215630426
- Uncertain significance
- Missense
- MetaLR 0.80
- MetaSVM 0.14
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available