L45Q (p.Leu45Gln) variant of PRKCH (Protein kinase C eta type)
L45Q (p.Leu45Gln) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L45Q (p.Leu45Gln) variant details
- p.Leu45Gln
- gnomAD 14-61322235-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.05
- MetaSVM -1.16
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available