T48I (p.Thr48Ile) variant of PRKCA (Protein kinase C alpha type)
T48I (p.Thr48Ile) in PRKCA (Protein kinase C alpha type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- Ensembl rs1567761731
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.60
- CADD 26.10
- PolyPhen-2 0.64
- SIFT 0.00
- Population evidence available
- Structural context available