A19G (p.Ala19Gly) variant of PRKCH (Protein kinase C eta type)
A19G (p.Ala19Gly) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- rs1457423603
- gnomAD 14-61327036-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.27
- ESM-1b 0.14
- AlphaMissense 0.53
- MetaLR 0.50
- MetaSVM -0.13
- CADD 17.51
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available