P5L (p.Pro5Leu) variant of PKP1 (Plakophilin-1)
P5L (p.Pro5Leu) in PKP1 (Plakophilin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- rs1417514113
- NCI-TCGA Cosmic COSV9982
- cosmic curated COSV99825
- gnomAD rs1417514113
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.23
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available