S3I (p.Ser3Ile) variant of PRKCH (Protein kinase C eta type)
S3I (p.Ser3Ile) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S3I (p.Ser3Ile) variant details
- p.Ser3Ile
- gnomAD 14-61327000-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.05
- ESM-1b 0.08
- AlphaMissense 0.16
- MetaLR 0.30
- MetaSVM -0.81
- CADD 2.29
- Population evidence available
- Structural context available
- Literature evidence available