L22F (p.Leu22Phe) variant of PRKCH (Protein kinase C eta type)
L22F (p.Leu22Phe) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- rs1216862492
- gnomAD 14-61327053-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.50
- MetaSVM -0.13
- CADD 21.60
- Most common in the Latino/Admixed American population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available