D42Y (p.Asp42Tyr) variant of PRKCH (Protein kinase C eta type)
D42Y (p.Asp42Tyr) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D42Y (p.Asp42Tyr) variant details
- p.Asp42Tyr
- gnomAD 14-61327050-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.44
- MetaSVM -0.37
- CADD 18.53
- Population evidence available
- Structural context available
- Literature evidence available