K7I (p.Lys7Ile) variant of PRKCH (Protein kinase C eta type)
K7I (p.Lys7Ile) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K7I (p.Lys7Ile) variant details
- p.Lys7Ile
- gnomAD 14-61327048-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.47
- MetaSVM -0.23
- CADD 19.11
- Population evidence available
- Structural context available
- Literature evidence available