R26C (p.Arg26Cys) variant of PRKCH (Protein kinase C eta type)
R26C (p.Arg26Cys) 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.
R26C (p.Arg26Cys) variant details
- p.Arg26Cys
- 1000Genomes rs574074666
- ExAC rs574074666
- gnomAD rs574074666
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.39
- MetaSVM -0.24
- CADD 26.40
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available