I16F (p.Ile16Phe) variant of PRKCH (Protein kinase C eta type)
I16F (p.Ile16Phe) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I16F (p.Ile16Phe) variant details
- p.Ile16Phe
- gnomAD rs2045634077
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.74
- MetaLR 0.08
- MetaSVM -1.10
- CADD 24.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available