D72E (p.Asp72Glu) variant of PKP1 (Plakophilin-1)
D72E (p.Asp72Glu) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D72E (p.Asp72Glu) variant details
- p.Asp72Glu
- gnomAD rs1228107718
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.36
- CADD 13.80
- PolyPhen-2 0.99
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available