Y130C (p.Tyr130Cys) variant of PKP2 (Plakophilin-2)
Y130C (p.Tyr130Cys) in PKP2 (Plakophilin-2) 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 0.40 / 1. The record also includes population frequency data and structural context.
Y130C (p.Tyr130Cys) variant details
- p.Tyr130Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.40
- MetaLR 0.71
- MetaSVM -0.28
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.68
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available