I16T (p.Ile16Thr) variant of PRKCH (Protein kinase C eta type)
I16T (p.Ile16Thr) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I16T (p.Ile16Thr) variant details
- p.Ile16Thr
- TOPMed rs1201894343
- gnomAD rs1201894343
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.11
- MetaSVM -0.87
- CADD 28.30
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available