M46V (p.Met46Val) variant of PKP1 (Plakophilin-1)
M46V (p.Met46Val) in PKP1 (Plakophilin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
M46V (p.Met46Val) variant details
- p.Met46Val
- ExAC rs369806569
- TOPMed rs369806569
- gnomAD rs369806569
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available