L45W (p.Leu45Trp) variant of PRKCH (Protein kinase C eta type)
L45W (p.Leu45Trp) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L45W (p.Leu45Trp) variant details
- p.Leu45Trp
- gnomAD 14-61327132-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.40
- MetaSVM -0.57
- CADD 8.11
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available