Q270L (p.Gln270Leu) variant of PKP2 (Plakophilin-2)
Q270L (p.Gln270Leu) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
Q270L (p.Gln270Leu) variant details
- p.Gln270Leu
- rs2541339582
- ClinGen CA384362375
- ClinVar RCV004266751
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available