A264T (p.Ala264Thr) variant of PKP2 (Plakophilin-2)
A264T (p.Ala264Thr) 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 0.16 / 1. The record also includes population frequency data and structural context.
A264T (p.Ala264Thr) variant details
- p.Ala264Thr
- NCI-TCGA Cosmic COSV5074
- cosmic curated COSV50741
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.18
- MetaLR 0.22
- MetaSVM -0.85
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.49
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available