Q18H (p.Gln18His) variant of PKP1 (Plakophilin-1)
Q18H (p.Gln18His) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- gnomAD rs1242339724
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.24
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available