P273S (p.Pro273Ser) variant of PKP2 (Plakophilin-2)
P273S (p.Pro273Ser) 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 0.23 / 1. The record also includes population frequency data and structural context.
P273S (p.Pro273Ser) variant details
- p.Pro273Ser
- rs765756156
- NCI-TCGA Cosmic COSV5073
- cosmic curated COSV50734
- ExAC rs765756156
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.17
- MetaLR 0.28
- MetaSVM -0.85
- CADD 7.50
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available