S3C (p.Ser3Cys) variant of PRKCH (Protein kinase C eta type)
S3C (p.Ser3Cys) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S3C (p.Ser3Cys) variant details
- p.Ser3Cys
- gnomAD 14-61326999-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.05
- ESM-1b 0.18
- AlphaMissense 0.08
- MetaLR 0.31
- MetaSVM -0.79
- CADD 2.03
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available