W27S (p.Trp27Ser) variant of PRKCH (Protein kinase C eta type)
W27S (p.Trp27Ser) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
W27S (p.Trp27Ser) variant details
- p.Trp27Ser
- rs1015891335
- gnomAD 14-61327045-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.14
- ESM-1b 0.62
- AlphaMissense 0.45
- MetaLR 0.50
- MetaSVM -0.13
- CADD 18.01
- Population evidence available
- Structural context available
- Literature evidence available