S225F (p.Ser225Phe) variant of PKP2 (Plakophilin-2)
S225F (p.Ser225Phe) 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 0.45 / 1. The record also includes population frequency data and structural context.
S225F (p.Ser225Phe) variant details
- p.Ser225Phe
- rs1463702794
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99298
- gnomAD rs1463702794
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.32
- MetaLR 0.61
- MetaSVM -0.38
- CADD 22.80
- PolyPhen-2 0.56
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available