M47del (p.Met47del) variant of PKP1 (Plakophilin-1)
M47del (p.Met47del) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
M47del (p.Met47del) variant details
- rs1655645507
- gnomAD 1-201283835-GTGA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 21.70
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available