P103L (p.Pro103Leu) variant of PKP2 (Plakophilin-2)
P103L (p.Pro103Leu) in PKP2 (Plakophilin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
P103L (p.Pro103Leu) variant details
- p.Pro103Leu
- NCI-TCGA Cosmic COSV5075
- cosmic curated COSV50754
- Ensembl rs1956960849
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.30
- MetaSVM -0.72
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available