L45P (p.Leu45Pro) variant of PRKCH (Protein kinase C eta type)
L45P (p.Leu45Pro) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L45P (p.Leu45Pro) variant details
- p.Leu45Pro
- gnomAD 14-61322235-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.05
- MetaSVM -1.15
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available