P244H (p.Pro244His) variant of PKP2 (Plakophilin-2)
P244H (p.Pro244His) 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.
P244H (p.Pro244His) variant details
- p.Pro244His
- NCI-TCGA Cosmic COSV5075
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.23
- MetaLR 0.44
- MetaSVM -0.68
- CADD 18.80
- PolyPhen-2 0.05
- SIFT 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available