E157Q (p.Glu157Gln) variant of PKP2 (Plakophilin-2)
E157Q (p.Glu157Gln) 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.
E157Q (p.Glu157Gln) variant details
- p.Glu157Gln
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99297
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.40
- MetaSVM -0.74
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available