Q23P (p.Gln23Pro) variant of PRKCH (Protein kinase C eta type)
Q23P (p.Gln23Pro) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q23P (p.Gln23Pro) variant details
- p.Gln23Pro
- rs2045705890
- gnomAD 14-61326997-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.53
- MetaLR 0.21
- MetaSVM -0.92
- CADD 1.33
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available