L77I (p.Leu77Ile) variant of PKP2 (Plakophilin-2)
L77I (p.Leu77Ile) 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 0.54 / 1. The record also includes population frequency data and structural context.
L77I (p.Leu77Ile) variant details
- p.Leu77Ile
- NCI-TCGA Cosmic COSV5075
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.36
- MetaLR 0.65
- MetaSVM 0.30
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available