D109Y (p.Asp109Tyr) variant of PKP2 (Plakophilin-2)
D109Y (p.Asp109Tyr) 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 0.58 / 1. The record also includes population frequency data and structural context.
D109Y (p.Asp109Tyr) variant details
- p.Asp109Tyr
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99298
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.48
- MetaLR 0.58
- MetaSVM -0.26
- CADD 24.80
- PolyPhen-2 0.82
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available