p.Val52 Gln56del variant of PRKCH (Protein kinase C eta type)
p.Val52 Gln56del in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val52 Gln56del variant details
- rs1177330807
- gnomAD 14-61322250-ACCAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 22.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available