L12S (p.Leu12Ser) variant of PRKCH (Protein kinase C eta type)
L12S (p.Leu12Ser) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L12S (p.Leu12Ser) variant details
- p.Leu12Ser
- gnomAD 14-61322136-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.21
- MetaSVM -0.51
- CADD 28.60
- Population evidence available
- Structural context available
- Literature evidence available