G17A (p.Gly17Ala) variant of PRKCH (Protein kinase C eta type)
G17A (p.Gly17Ala) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- gnomAD rs1195704186
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.33
- MetaLR 0.27
- MetaSVM -0.70
- CADD 24.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available