G17D (p.Gly17Asp) variant of PRKCH (Protein kinase C eta type)
G17D (p.Gly17Asp) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- gnomAD 14-61322151-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.95
- MetaLR 0.41
- MetaSVM -0.31
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available