V275M (p.Val275Met) variant of PKP2 (Plakophilin-2)
V275M (p.Val275Met) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V275M (p.Val275Met) variant details
- p.Val275Met
- rs2541339476
- ClinGen CA384362284
- ClinVar RCV003171722
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.22
- MetaLR 0.38
- MetaSVM -0.75
- CADD 2.12
- PolyPhen-2 0.19
- SIFT 0.33
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available