P5Q (p.Pro5Gln) variant of PKP1 (Plakophilin-1)
P5Q (p.Pro5Gln) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P5Q (p.Pro5Gln) variant details
- p.Pro5Gln
- gnomAD 1-201283716-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.25
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available