p.Val49 Asp50del variant of PRKCH (Protein kinase C eta type)
p.Val49 Asp50del in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val49 Asp50del variant details
- gnomAD 14-61322244-GCGTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available