H38Q (p.His38Gln) variant of PRKCH (Protein kinase C eta type)
H38Q (p.His38Gln) 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.
H38Q (p.His38Gln) variant details
- p.His38Gln
- gnomAD 14-61322215-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.04
- CADD 17.71
- Population evidence available
- Structural context available
- Literature evidence available