A304V (p.Ala304Val) variant of PKP2 (Plakophilin-2)
A304V (p.Ala304Val) 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.
A304V (p.Ala304Val) variant details
- p.Ala304Val
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99297
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.33
- MetaSVM -0.73
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available