L33F (p.Leu33Phe) variant of PRKCH (Protein kinase C eta type)
L33F (p.Leu33Phe) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L33F (p.Leu33Phe) variant details
- p.Leu33Phe
- gnomAD 14-61322198-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -0.95
- CADD 21.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available