I57del (p.Ile57del) variant of PRKCA (Protein kinase C alpha type)
I57del (p.Ile57del) in PRKCA (Protein kinase C alpha type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
I57del (p.Ile57del) variant details
- rs751044895
- gnomAD 17-66303017-TTCA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available