p.Met6 Lys7insProGlyThrMet variant of PRKCH (Protein kinase C eta type)
p.Met6 Lys7insProGlyThrMet in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
p.Met6 Lys7insProGlyThrMet variant details
- gnomAD 14-61322108-T-TCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 21.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available