P5S (p.Pro5Ser) variant of PKP1 (Plakophilin-1)
P5S (p.Pro5Ser) 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 0.39 / 1. The record also includes structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs1189119963
- NCI-TCGA Cosmic COSV9982
- cosmic curated COSV99825
- gnomAD rs1189119963
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.64
- MetaLR 0.23
- MetaSVM -0.90
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available