D232N (p.Asp232Asn) variant of PKP2 (Plakophilin-2)
D232N (p.Asp232Asn) 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 0.34 / 1. The record also includes population frequency data and structural context.
D232N (p.Asp232Asn) variant details
- p.Asp232Asn
- NCI-TCGA Cosmic COSV5075
- cosmic curated COSV50752
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.25
- MetaLR 0.64
- MetaSVM -0.47
- CADD 20.80
- PolyPhen-2 0.62
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available