L14F (p.Leu14Phe) variant of DSC2 (Desmocollin-2)
L14F (p.Leu14Phe) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- gnomAD rs1387586684
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Structural context available