L19C (p.Leu19Cys) variant of NPR1 (P16066)
L19C (p.Leu19Cys) in NPR1 (P16066) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L19C (p.Leu19Cys) variant details
- p.Leu19Cys
- gnomAD 1-153679161-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 21.70
- Population evidence available
- Structural context available
- Literature evidence available