E85D (p.Glu85Asp) variant of PKP2 (Plakophilin-2)
E85D (p.Glu85Asp) in PKP2 (Plakophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E85D (p.Glu85Asp) variant details
- p.Glu85Asp
- rs1366955346
- NCI-TCGA Cosmic COSV5072
- cosmic curated COSV50728
- gnomAD rs1366955346
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.41
- MetaLR 0.69
- MetaSVM 0.34
- CADD 20.50
- PolyPhen-2 0.98
- SIFT 0.24
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available