D17D (p.Asp17Asp) variant of PKP1 (Plakophilin-1)
D17D (p.Asp17Asp) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D17D (p.Asp17Asp) variant details
- p.Asp17Asp
- rs1558180237
- gnomAD 1-201283753-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available