R26G (p.Arg26Gly) variant of PRKCH (Protein kinase C eta type)
R26G (p.Arg26Gly) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R26G (p.Arg26Gly) variant details
- p.Arg26Gly
- rs1247254370
- gnomAD 14-61327071-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.47
- MetaSVM -0.23
- CADD 20.50
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available