L23S (p.Leu23Ser) variant of PKP1 (Plakophilin-1)
L23S (p.Leu23Ser) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L23S (p.Leu23Ser) variant details
- p.Leu23Ser
- gnomAD rs1201125089
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.29
- CADD 31.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available