S3Y (p.Ser3Tyr) variant of PRKCH (Protein kinase C eta type)
S3Y (p.Ser3Tyr) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S3Y (p.Ser3Tyr) variant details
- p.Ser3Tyr
- gnomAD 14-61322109-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.09
- ESM-1b 0.58
- AlphaMissense 0.16
- MetaLR 0.25
- MetaSVM -0.50
- CADD 24.10
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available