K45del (p.Lys45del) variant of PRKCH (Protein kinase C eta type)
K45del (p.Lys45del) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K45del (p.Lys45del) variant details
- gnomAD 14-61327123-CGAA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 11.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available