T25I (p.Thr25Ile) variant of PRKCH (Protein kinase C eta type)
T25I (p.Thr25Ile) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- 1000Genomes rs553588998
- ExAC rs553588998
- TOPMed rs553588998
- gnomAD rs553588998
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.54
- MetaSVM 0.22
- CADD 27.20
- Population evidence available
- Structural context available