Q23H (p.Gln23His) variant of PRKCH (Protein kinase C eta type)
Q23H (p.Gln23His) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q23H (p.Gln23His) variant details
- p.Gln23His
- rs2045705929
- gnomAD 14-61326998-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.28
- MetaSVM -0.83
- CADD 4.59
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available