G17C (p.Gly17Cys) variant of PRKCH (Protein kinase C eta type)
G17C (p.Gly17Cys) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- 1000Genomes rs138654844
- ExAC rs138654844
- gnomAD rs138654844
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.48
- MetaLR 0.11
- MetaSVM -1.02
- CADD 22.80
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available