F34S (p.Phe34Ser) variant of PRKCH (Protein kinase C eta type)
F34S (p.Phe34Ser) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
F34S (p.Phe34Ser) variant details
- p.Phe34Ser
- rs936577453
- gnomAD 14-61327105-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.47
- MetaSVM -0.23
- CADD 19.50
- Population evidence available
- Structural context available
- Literature evidence available