R40R (p.Arg40Arg) variant of PKP1 (Plakophilin-1)
R40R (p.Arg40Arg) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R40R (p.Arg40Arg) variant details
- p.Arg40Arg
- rs1655645174
- gnomAD 1-201283822-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 11.80
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available