T5I (p.Thr5Ile) variant of PRKCH (Protein kinase C eta type)
T5I (p.Thr5Ile) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T5I (p.Thr5Ile) variant details
- p.Thr5Ile
- gnomAD rs1306661027
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.14
- MetaSVM -1.05
- CADD 19.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available