G53V (p.Gly53Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
G53V (p.Gly53Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
G53V (p.Gly53Val) variant details
- p.Gly53Val
- 1000Genomes rs556992218
- ExAC rs556992218
- TOPMed rs556992218
- gnomAD rs556992218
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available